| Passage Frozen |
28 |
| |
| 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 |
ASAH |
| Chromosomal Location |
8p22 |
| Allelic Variant 1 |
613468.0003; FARBER LIPOGRANULOMATOSIS |
| Identified Mutation |
TYR36CYS; In a male offspring of consanguineous Tunisian parents with the severe (classic) subtype of Farber lipogranulomatosis (Souillet et al., 1989), Bar et al. (2001) found a tyr36-to-cys (Y36C) mutation of the ASAH gene due to a 107A-G transition. The amino acid substitution was located in the alpha subunit. |
| |
| Gene |
ASAH |
| Chromosomal Location |
8p22 |
| Allelic Variant 2 |
613468.0003; FARBER LIPOGRANULOMATOSIS |
| Identified Mutation |
TYR36CYS; In a male offspring of consanguineous Tunisian parents with the severe (classic) subtype of Farber lipogranulomatosis (Souillet et al., 1989), Bar et al. (2001) found a tyr36-to-cys (Y36C) mutation of the ASAH gene due to a 107A-G transition. The amino acid substitution was located in the alpha subunit. |