GM28230
iPSC from Fibroblast
Description:
MUCOPOLYSACCHARIDOSIS TYPE II
IDURONATE 2-SULFATASE; IDS
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Lysosomal Storage Diseases |
| Protocols |
Protocol PDF |
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Biopsy Source
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Skin
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Cell Type
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Stem cell
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Cell Subtype
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Induced pluripotent stem cell
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Transformant
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Reprogrammed (Sendai)
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Sample Source
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iPSC from Fibroblast
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Race
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White
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Ethnicity
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HAITIAN
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Country of Origin
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USA
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Relation to Proband
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proband
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Confirmation
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Biochemical characterization - other
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ISCN
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46,XY[20]
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| Passage Frozen |
17 |
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| 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. |
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| Gene |
IDS |
| Chromosomal Location |
Xq28 |
| Allelic Variant 1 |
H70PfsX29; MUCOPOLYSACCHARIDOSIS TYPE II |
| Identified Mutation |
208insC |
| 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. |
| Passage Frozen |
17 |
| Split Ratio |
1:8 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
mTeSR1 |
| Serum |
none |
| Substrate |
Matrigel |
| Supplement |
- |
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