GM23937
iPSC from Fibroblast
Description:
TAY-SACHS DISEASE; TSD
HEXOSAMINIDASE A; HEXA
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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 (Retroviral)
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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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Ashkenazi
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Family Member
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1
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Family History
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N
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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ISCN
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46,XY
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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 |
15 |
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| Induced Pluripotent Stem Cell |
The cell line submitted to the Repository frozen 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 and the PluriTest. Steady-state mRNA expression patterns of undifferentiated iPSCs and EBs were determined via real-time PCR. Characterization data are included in the Certificate of Analysis. |
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| Gene |
HEXA |
| Chromosomal Location |
15q23-q24 |
| Allelic Variant 1 |
606869.0001; TAY-SACHS DISEASE |
| Identified Mutation |
c.1274_1277dupTATC; Myerowitz and Costigan [J Biol Chem 263: 18587 (1988)] demonstrated that the most frequent DNA lesion in Tay-Sachs disease of Ashkenazi Jews is a 4-bp insertion in exon 11. This mutation introduces a premature termination signal in exon 11, resulting in a deficiency of mRNA. This is the most frequent defect underlying Tay-Sachs disease in the Ashkenazi Jewish population. This mutation is alternatively designated 1277TATC; see 272800.0054. |
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| Gene |
HEXA |
| Chromosomal Location |
15q23-q24 |
| Allelic Variant 2 |
606869.0001; TAY-SACHS DISEASE |
| Identified Mutation |
c.1274_1277dupTATC; Myerowitz and Costigan [J Biol Chem 263: 18587 (1988)] demonstrated that the most frequent DNA lesion in Tay-Sachs disease of Ashkenazi Jews is a 4-bp insertion in exon 11. This mutation introduces a premature termination signal in exon 11, resulting in a deficiency of mRNA. This is the most frequent defect underlying Tay-Sachs disease in the Ashkenazi Jewish population. This mutation is alternatively designated 1277TATC; see 272800.0054. |
| Remarks |
Induced pluripotent stem cell derived from parental fibroblast GM11853 via retroviral reprogramming; subject clinically affected; pregnancy complicated by vaginal bleeding at 10 weeks, and by brief episode of false pregnancy at 6 months; uncomplicated full-term birth; hyperbilirubinemia as neonate; history of “behavioral” problems (colic, disinterest in toys, crying, rarely smiling, demanding parents’ attention); examination at 8 months of age revealed bilateral macular pallor with prominence of fovea centralis (cherry red spots), poor visual fixation, abnormal startle response, decreased language, and decreased motor development (decreased tone in upper extremities, increased tone at both ankles with sustained clonus); progressive encephalopathy; developmental milestones include: rolled from front to back at 3 months (did not roll from back to front), sat without support at 6.5 months (unable to get to sitting position by himself), able to hold objects in hands (does not actively reach for objects); deficient hexosaminidase A activity in blood; donor subject is homozygous for a 4 base pair duplication in exon 11 of the HEXA gene, c.1274_1277dupTATC (p.Tyr427Ilefs) resulting in a premature termination signal; see GM11852 (lymph) and GM11853 (Fibroblast); isogenic control line for this iPSC is GM28966. 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 WARF. |
| Gene Cards |
HEXA |
| Gene Ontology |
GO:0004563 beta-N-acetylhexosaminidase activity |
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GO:0005764 lysosome |
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GO:0005975 carbohydrate metabolism |
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GO:0006687 glycosphingolipid metabolism |
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GO:0016798 hydrolase activity, acting on glycosyl bonds |
| NCBI Gene |
Gene ID:3073 |
| NCBI GTR |
272800 TAY-SACHS DISEASE; TSD |
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606869 HEXOSAMINIDASE A; HEXA |
| OMIM |
272800 TAY-SACHS DISEASE; TSD |
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606869 HEXOSAMINIDASE A; HEXA |
| Omim Description |
B VARIANT GM2 GANGLIOSIDOSIS |
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GM2-GANGLIOSIDOSIS, ADULT CHRONIC TYPE, INCLUDED |
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GM2-GANGLIOSIDOSIS, TYPE I |
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HEXA DEFICIENCYHEXOSAMINIDASE A, INCLUDED; HEXA, INCLUDED |
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HEXOSAMINIDASE A DEFICIENCY |
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HEXOSAMINIDASE A DEFICIENCY, ADULT TYPE, INCLUDED |
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TAY-SACHS DISEASE, JUVENILE, INCLUDED |
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TAY-SACHS DISEASE, PSEUDO-AB VARIANT, INCLUDED |
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TAY-SACHS DISEASE, VARIANT B1, INCLUDED |
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TAY-SACHS DISEASE; TSD |
| Passage Frozen |
15 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
mTeSR1 |
| Serum |
none |
| Substrate |
Matrigel |
| Supplement |
- |
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