Coriell Institute for Medical Research
Coriell Institute of Medical Research
  • Request a Quote
  • Donate
  • Login
  • View Cart
Sample Catalog | Custom Services | Core Facilities | Genomic Data Search
  • Biobank
    • NIGMS
    • NINDS
    • NIA
    • NHGRI
    • NEI
    • Allen Cell Collection
    • Rett Syndrome iPSC Collection
    • Autism Research Resource
    • HD Community Biorepository
    • CDC Cell and DNA
    • J. Craig Venter Institute
    • Orphan Disease Center Collection
    • All Biobanks
  • Research
    • Overview
    • Meet Our Scientists
      • Our Faculty
      • Our Scientific Staff
    • Camden Cancer Research Center
    • Epigenetic Therapies SPORE
    • Core Facilities
    • Epigenomics
    • Camden Opioid Research Initiative (CORI)
    • The Issa & Jelinek Lab
    • The Jian Huang Lab
    • The Luke Chen Lab
      • The Lab
      • The Team
      • Publications
    • The Scheinfeldt Lab
    • The Shumei Song Lab
    • The Nora Engel Lab
      • The Lab
      • The Team
      • Publications
    • Publications
  • Services
    • Overview
    • Biobanking Services
      • Core Services
      • Project Management
      • Research Support Services
      • Sample Cataloging
      • Sample Collection Kits
      • Sample Data Management
      • Sample Distribution
      • Sample Management
      • Sample Procurement
      • Sample Storage
    • Bioinformatics and Biostatistics Services
    • Cellular and Molecular Services
      • Biomarker Research Solutions
      • Cell Culture
      • Nucleic Acid Isolation and Quality Control
    • Clinical Trial Support
      • Overview
      • Sample Collection
      • Data Management
      • Sample Processing and QC
      • Storage and Distribution
      • Biomarker Services
      • Data Analaysis
    • Core Facilties
      • Overview
      • Animal and Xenograft
      • Bioinformatics and Biostatistics
      • Cell Imaging
      • CRISPR Gene Engineering
      • Flow Cytometry and Cell Sorting
      • Genomics and Epigenomics
      • iPSC - Induced Pluripotent Stem Cells
      • Organoids
    • Coriell Marketplace
    • Genomic, Epigenomic and Multiomics Services
    • Stem Cells and iPSC Services
      • Core Services
      • Reprogramming
      • Characterization and Quality Control
      • Differentiated Cell Lines
      • iPSC-Derived Organoids
      • iPSC Expansion
      • iPSC Gene Editing
  • Ordering
    • Stem Cells
    • Cell Lines
    • DNA and RNA
    • Featured Products
      • FFPE
      • HMW DNA
    • Genomic Data Search
    • Search by Catalog ID
    • Help
      • Create Account
      • Order Online
      • Ordering FAQ
      • FAQs/Culture Instructions
      • Reference Materials
        • Biobanks
        • NIGMS Repository
        • NHGRI Repository
        • NINDS Repository
        • NIA Repository
        • NIST
        • GeT-RM
      • Secondary Distribution Policies
      • MTA Assurance Form
      • Shipment Policy
      • Contact Customer Service
  • About Us
    • Our History
    • Meet Our Team
    • Meet Our Board
    • Education
      • Science Fair
      • Summer Experience
      • Outreach
      • Research Program Internship
    • Press Room
      • Press Releases
      • Coriell Blog
      • Annual Report
    • Careers
      • Working at Coriell
    • Giving
      • Donate
      • Giving FAQ
    • Contact Us
    • Legal Notice
  • Login View Cart
search submit
GM27464 iPSC from Fibroblast

Description:

NIEMANN-PICK DISEASE, TYPE A
SPHINGOMYELIN PHOSPHODIESTERASE 1, ACID LYSOSOMAL; SMPD1

Affected:

Yes

Sex:

Female

Age:

2 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links
  • Culture Protocols

Overview

back to top
Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Lysosomal Storage Diseases
Protocols Protocol PDF
Biopsy Source Skin
Cell Type Stem cell
Cell Subtype Induced pluripotent stem cell
Transformant Reprogrammed (Sendai)
Sample Source iPSC from Fibroblast
Race Not Reported
Ethnicity ASHKENAZI
Country of Origin USA
Family Member 1
Relation to Proband proband
Confirmation Biochemical characterization before cell line submission to CCR
ISCN 46,XX[25].arr(1-22,X)x2
Species Homo sapiens
Common Name Human
Remarks Cell line ID: HT139B from parental fibro GM13205 - PMID 27484861 (Corrigendum PMID 34310862); Ashkenazi; developmental delay; hypotonia; does not show marked hepatosplenomegaly; no detectable sphingomyelinase activity in WBC and fibroblasts; donor subject has one allele with a deletion of a single cytosine in exon 2 at codon 330 of the SMPD1 gene [990delC] resulting in a frameshift leading to the formation of a premature stop (TGA) at codon 382 [P330fsX382]; same subject as GM13205 (fibroblast). Researchers purchasing hiPSCs from the NIGMS Repository are responsible for any limited use label licenses (LULLs) applicable to the cell line purchased. The applicable LULL to this line is Sendai-CytoTune.

Characterizations

back to top
Passage Frozen 17
 
Induced Pluripotent Stem Cell The frozen cell line submitted to the Repository was recovered and expanded. The expanded line was evaluated for viability surface antigen expression and alkaline phosphatase activity. Pluripotency was assessed via embryoid body (EB) formation. Steady-state mRNA expression patterns of undifferentiated iPSC and EBs were determined via real-time PCR. Characterization data are included in the Certificate of Analysis.
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by LINE assay
 
Gene SMPD1
Chromosomal Location 11p15.4-p15.1
Allelic Variant 1 607608.0011; NIEMANN-PICK DISEASE, TYPE A
Identified Mutation 1-BP DEL, PRO330FS; Levran et al. (Blood 80: 2081-2087, 1992) described a new mutation that causes type A Niemann-Pick disease (257200) in Ashkenazi Jewish patients. Deletion of a single cytosine in codon 330 of the SMPD1 cDNA (which normally encodes a proline residue) caused a frameshift that led to the formation of a premature stop (TGA) at codon 382. Three mutations, R496L (607608.0001), L302P (607608.0010), and this mutation, account for about 65% of the mutant SMPD1 alleles in Ashkenazi Jewish type A Niemann-Pick disease patients. The single base deletion causing the pro330FS mutation was in a region of the gene where 9 of the 10 residues were cytosines.

Phenotypic Data

back to top
Remarks Cell line ID: HT139B from parental fibro GM13205 - PMID 27484861 (Corrigendum PMID 34310862); Ashkenazi; developmental delay; hypotonia; does not show marked hepatosplenomegaly; no detectable sphingomyelinase activity in WBC and fibroblasts; donor subject has one allele with a deletion of a single cytosine in exon 2 at codon 330 of the SMPD1 gene [990delC] resulting in a frameshift leading to the formation of a premature stop (TGA) at codon 382 [P330fsX382]; same subject as GM13205 (fibroblast). Researchers purchasing hiPSCs from the NIGMS Repository are responsible for any limited use label licenses (LULLs) applicable to the cell line purchased. The applicable LULL to this line is Sendai-CytoTune.

Publications

back to top
, CORRIGENDUM Stem cells translational medicine10:1360 2021
PubMed ID: 34310862
 
Long Y, Xu M, Li R, Dai S, Beers J, Chen G, Soheilian F, Baxa U, Wang M, Marugan JJ, Muro S, Li Z, Brady R, Zheng W, Induced Pluripotent Stem Cells for Disease Modeling and Evaluation of Therapeutics for Niemann-Pick Disease Type A Stem cells translational medicine5:1644-1655 2015
PubMed ID: 27484861

External Links

back to top
Gene Cards SMPD1
Gene Ontology GO:0004767 sphingomyelin phosphodiesterase activity
GO:0005764 lysosome
GO:0005975 carbohydrate metabolism
GO:0006685 sphingomyelin catabolism
GO:0007165 signal transduction
GO:0007399 neurogenesis
GO:0016798 hydrolase activity, acting on glycosyl bonds
NCBI Gene Gene ID:6609
NCBI GTR 257200 NIEMANN-PICK DISEASE, TYPE A
607608 SPHINGOMYELIN PHOSPHODIESTERASE 1, ACID LYSOSOMAL; SMPD1
OMIM 257200 NIEMANN-PICK DISEASE, TYPE A
607608 SPHINGOMYELIN PHOSPHODIESTERASE 1, ACID LYSOSOMAL; SMPD1
Omim Description NIEMANN-PICK DISEASE, TYPE A

Culture Protocols

back to top
Passage Frozen 17
Split Ratio 1:8
Temperature 37 C
Percent CO2 5%
Percent O2 AMBIENT
Medium mTeSR1
Serum none
Substrate Matrigel
Supplement -
Pricing
International/Commercial/For-profit:
$1,789.00USD
U.S. Academic/Non-profit/Government:
$1,110.00USD
Add to Cart
How to Order
  • Ordering Instructions
  • MTA / Assurance Form
  • Statement of Research Intent Form
Related Products
Same Subject
  • NA13205 - DNA
  • GM13205 - Fibroblast
Same Family
  • 3450
Miscellaneous
  • DNA on Demand
  • Custom Services

Our mission is to prevent and cure disease through biomedical research.

CONTACT US

CUSTOMER SERVICE
customerservice@coriell.org (800) 752-3805 • (856) 757-4848
Subscribe to our newsletter here

Coriell Institute for Medical Research
403 Haddon Avenue Camden, NJ 08103, USA (856) 966-7377

Ⓒ 2025 Coriell Institute. All rights reserved.

  • Facebook
  • Linkedin
  • Youtube