| 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 |
RECQL4 |
| Chromosomal Location |
8q24.3 |
| Allelic Variant 1 |
603780.0003; ROTHMUND-THOMSON SYNDROME |
| Identified Mutation |
2-BP DEL, NT2492; In cells of an Rothmund-Thomson syndrome (RTS; 268400) patient of European descent deposited in the cell bank of the National Institute of Aging (AG05013), Kitao et al. [Genomics 54: 443-452 (1998)] found compound heterozygosity for 2 mutations of the RECQL4 gene: a 2-bp deletion (designated mut-3) and a G-to-T transversion at the junction of intron 12 and exon 13 that destroyed the splicing acceptor sequence (mut-4). Both mutations were associated with a translational frameshift. Exon 13 was deleted in the case of the mut-4 allele. |
| |
| Gene |
RECQL4 |
| Chromosomal Location |
8q24.3 |
| Allelic Variant 2 |
603780.0004; ROTHMUND-THOMSON SYNDROME |
| Identified Mutation |
IVS12AS, G>T, -1; In cells of an Rothmund-Thomson syndrome (RTS; 268400) patient of European descent deposited in the cell bank of the National Institute of Aging (AG05013), Kitao et al. [Genomics 54: 443-452 (1998)] found compound heterozygosity for 2 mutations of the RECQL4 gene: a 2-bp deletion (designated mut-3) and a G-to-T transversion at the junction of intron 12 and exon 13 that destroyed the splicing acceptor sequence (mut-4). Both mutations were associated with a translational frameshift. Exon 13 was deleted in the case of the mut-4 allele. See also Kitao et al. [Nature Genet. 22: 82-84 (1999)]. |