| Passage Frozen |
13 |
| |
| Induced Pluripotent Stem Cell |
The parental cell line was recovered reprogrammed to an induced pluripotent stem cell line 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 |
ASL |
| Chromosomal Location |
7cen-q11.2 |
| Allelic Variant 1 |
608310.0005; ARGININOSUCCINIC ACIDURIA |
| Identified Mutation |
VAL178MET; In a patient from a family with variable age of onset of ASL deficiency (207900) and considerable residual ASL activity, Kleijer et al. (2002) identified a homozygous 532G-A transition in the ASL gene, resulting in a val178-to-met (V178M) substitution. |
| |
| Gene |
ASL |
| Chromosomal Location |
7cen-q11.2 |
| Allelic Variant 1 |
p.R193Q; ARGININOSUCCINIC ACIDURIA |
| Identified Mutation |
ARG193GLN |
| |
| Gene |
ASL |
| Chromosomal Location |
7cen-q11.2 |
| Allelic Variant 2 |
p.R193Q; ARGININOSUCCINIC ACIDURIA |
| Identified Mutation |
ARG193GLN |
| |
| Gene |
ASL |
| Chromosomal Location |
7cen-q11.2 |
| Allelic Variant 2 |
608310.0005; ARGININOSUCCINIC ACIDURIA |
| Identified Mutation |
VAL178MET; In a patient from a family with variable age of onset of ASL deficiency (207900) and considerable residual ASL activity, Kleijer et al. (2002) identified a homozygous 532G-A transition in the ASL gene, resulting in a val178-to-met (V178M) substitution. |