Coriell Institute for Medical Research
Request a Quote
Donate
Login
View Cart
Samples
OR
Website
Sample Catalog
|
Custom Services
|
Core Facilities
|
Genomic Data Search
Navigation Header
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
About Coriell
Meet Our Team
Meet Our Board
Education
Science Fair
Summer Experience
Outreach
College Internships
Press Room
Press Releases
Coriell Blog
Annual Report
Careers
Working at Coriell
Verifications of Employment
Giving
Donate
Giving FAQ
Contact Us
Notices
Legal Notice
IBC Minutes
Login
View Cart
search submit
GM29462
Fibroblast
Description:
SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT; SPG4
SPASTIN; SPAST
Affected:
Yes
Sex:
Male
Age:
11
YR
(At Sampling)
Sample Description
Overview
Characterizations
Phenotypic Data
External Links
Culture Protocols
Overview
Repository
NIGMS Human Genetic Cell Repository
Subcollection
Heritable Diseases
PIGI Consented Sample
Cell Type
Fibroblast
Tissue Type
Skin
Transformant
Untransformed
Race
Asian
Ethnicity
Asian; India
Country of Origin
USA
Family History
N
Relation to Proband
proband
Confirmation
Molecular characterization before cell line submission to CCR
Species
Homo
sapiens
Common Name
Human
Remarks
See "Phenotypic Data" Tab. Publication: Natural History Study by Boston Children's Hospital, PMID:34544818
Characterizations
PDL at Freeze
5.41
Passage Frozen
2
Gene
SPAST
Chromosomal Location
2p22.3
Allelic Variant 1
Gly417Glu;
Identified Mutation
1250G>A (p.Gly417Glu)
; SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT; SPG4
Phenotypic Data
Demographic Data
Relation to Proband
proband
Age at Sampling
11 YR
Sex
Male
Age of Onset(If not a control)
12 MO
Age at Diagnosis(If not a control)
11 YR
Racial Category
Asian
Country
USA
Data Elements
Clinical Element Type: General NIGMS Catalog Remarks
(Baseline)
Mutation Information
Gene, variant, consequence, and exon number:
SPAST C.1250G>A (P.GLY417GLU), ON EXON 10
Zygosity:
Heterozygous
Notes:
DE NOVO EVENT
Other variants:
HETEROZYGOUS GENES/VARIANTS OF UNKNOWN SIGNIFICANCE PRESENTED AT LESS THAN 1% FREQUENCY INCLUDE: _ADCY5 C.2543C>T (P.ALA848VAL) ON EXON 13. _CACNA1G C.1759G>A (P.GLY587ARG) ON EXON 8. _COG4 C.266_267DELINSCT (P.GLN89PRO) ON EXON 3. _KIAA0586 C.716A>T (P.HIS239LEU) ON EXON 6. _LARS2 C.2172G>T (P.GLU724ASP) ON EXON 18. _PDGFRB C.2429T>C (P.VAL810ALA) ON EXON 17. _PIGG C.277A>G (P.THR93ALA) ON EXON 2. _PRX C.2996A>G (P.ASP999GLY) ON EXON 7. _RARS C.1367C>T (P.SER456LEU) ON EXON 12. _SYNE1 C.14288G>A (P.ARG4763GLN) ON EXON 77. _TELO2 C.688A>G (P.ILE230VAL) ON EXON 5. _WDR81 C.656T>C (P.LEU219SER) ON EXON 1. _WDR81 C.4758G>A (P.SER1586SER) ON EXON 7.
Age of Symptom Onset and Age at Diagnosis
Age of Symptom Onset:
12 MONTHS
Age at Diagnosis:
11 YEARS
In Utero History Information
Birth History Information
Dysmorphic Features
Neurological Symptoms
Cerebral palsy
Ataxia
Hypotonia
Additional Information:
PROGRESSIVE MOVEMENT DISORDER WITH TREMOR; TRUNCAL HYPOTONIA; MUSCLE WEAKNESS UPPER LIMBS; SPASTIC DIPLEGIA; SYRINX OF SPINAL CORD; SPASTICITY.
Optical and Audiological Symptoms
Additional Information:
NEARSIGHTEDNESS; DYSARTHRIA - DELAYED SPEECH
Musculoskeletal Symptoms
Developmental Milestones
Global developmental delay
Gastrointestinal Symptoms
Genitourinary Symptoms
Hydronephrosis
Respiratory and Cardiovascular Symptoms
Cognitive and Behavioral Symptoms
Additional Information
Testing Performed
Treatments and Assistive Devices
Occupational therapy
Physical therapy
Speech therapy
Wheelchair or ambulation devices
Communication or learning devices
Surgeries
SPINAL SURGERY; BILATERAL HIP SURGERY
Medications
CARBIDOPA-LEVODOPA (25-100MG); BACLOFEN PREVIOUSLY; MULTIVITAMIN (106MG)
Family History
Remarks
See "Phenotypic Data" Tab. Publication: Natural History Study by Boston Children's Hospital, PMID:34544818
External Links
Gene Cards
SPART
SPAST
Gene Ontology
GO:0005524 ATP binding
GO:0005634 nucleus
NCBI Gene
Gene ID:23111
Gene ID:6683
NCBI GTR
182601 SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT; SPG4
604277 SPASTIN; SPAST
607111 SPARTIN; SPART
OMIM
182601 SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT; SPG4
604277 SPASTIN; SPAST
607111 SPARTIN; SPART
Omim Description
FAMILIAL SPASTIC PARAPLEGIA, AUTOSOMAL DOMINANT, 2; FSP2
SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT; SPG4
Culture Protocols
Cumulative PDL at Freeze
5.41
Passage Frozen
2
Split Ratio
1:4
Temperature
37 C
Percent CO2
5%
Percent O2
3%
Medium
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent
Serum
15% fetal bovine serum Not inactivated
Supplement
-
Pricing
International/Commercial/For-profit:
$373.00
USD
U.S. Academic/Non-profit/Government:
$216.00
USD
Add to Cart
How to Order
Ordering Instructions
MTA / Assurance Form
Statement of Research Intent Form
Related Products
Miscellaneous
DNA on Demand
Custom Services