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GM28230 iPSC from Fibroblast

Description:

MUCOPOLYSACCHARIDOSIS TYPE II
IDURONATE 2-SULFATASE; IDS

Affected:

Yes

Sex:

Male

Age:

3 YR (At Sampling)

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

Overview

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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 White
Ethnicity HAITIAN
Country of Origin USA
Relation to Proband proband
Confirmation Biochemical characterization - other
ISCN 46,XY[20]
Species Homo sapiens
Common Name Human
Remarks Cell line ID: HT525B (NCATS-CL-6486) reprogrammed from fibroblast line GM13203 - PMID 34990619; Haitian; coarse features; umbilical hernia; enlarged liver; flat acetabulum; developmental delay especially speech; deficient plasma iduronate sulfatase activity; donor subject is hemizygous for a 1 bp insertion at nucleotide 208 in exon 2 of the IDS gene (208insC) resulting in a frameshift and premature stop codon (H70PfsX29). 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

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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.
 
Gene IDS
Chromosomal Location Xq28
Allelic Variant 1 H70PfsX29; MUCOPOLYSACCHARIDOSIS TYPE II
Identified Mutation 208insC

Phenotypic Data

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Remarks Cell line ID: HT525B (NCATS-CL-6486) reprogrammed from fibroblast line GM13203 - PMID 34990619; Haitian; coarse features; umbilical hernia; enlarged liver; flat acetabulum; developmental delay especially speech; deficient plasma iduronate sulfatase activity; donor subject is hemizygous for a 1 bp insertion at nucleotide 208 in exon 2 of the IDS gene (208insC) resulting in a frameshift and premature stop codon (H70PfsX29). 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.

External Links

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Gene Cards IDS
Gene Ontology GO:0004423 iduronate-2-sulfatase activity
GO:0005764 lysosome
GO:0008152 metabolism
GO:0008484 sulfuric ester hydrolase activity
GO:0016787 hydrolase activity
GO:0030203 glycosaminoglycan metabolism
NCBI Gene Gene ID:3423
NCBI GTR 300823 IDURONATE 2-SULFATASE; IDS
309900 MUCOPOLYSACCHARIDOSIS, TYPE II; MPS2
OMIM 300823 IDURONATE 2-SULFATASE; IDS
309900 MUCOPOLYSACCHARIDOSIS, TYPE II; MPS2
Omim Description HUNTER SYNDROME
  IDS DEFICIENCY
  IDURONATE 2-SULFATASE DEFICIENCY
  MPS II; MPS2
  MUCOPOLYSACCHARIDOSIS TYPE II
  SIDS DEFICIENCYIDURONATE 2-SULFATASE, INCLUDED; IDS, INCLUDED
  SULFO-IDURONATE SULFATASE DEFICIENCY

Culture Protocols

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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
  • NA13203 - DNA
  • GM13203 - Fibroblast
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