AG29774

AG29774 iPSC from Fibroblast

Description:

ROTHMUND-THOMSON SYNDROME; RTS
RECQ PROTEIN-LIKE 4; RECQL4
NIA AGING CELL REPOSITORY DNA PANEL - AGING SYNDROMES

Affected:

Yes

Sex:

Male

Age:

10 YR (At Sampling)

Overview

Repository

NIA Aging Cell Culture Repository

Subcollection

Heritable Diseases

Protocols

Protocol PDF

Biopsy Source

Skin

Cell Type

Stem cell

Cell Subtype

Induced pluripotent stem cell

Transformant

Reprogrammed (Sendai)

Sample Source

iPSC from Fibroblast

Race

White

Relation to Proband

proband

Confirmation

Clinical summary/Case history

ISCN

46,XY[20]

Species

Homo sapiens

Common Name

Human

Remarks

Reprogrammed from parental fibroblast AG05013. The donor had features of short stature, sparse hair, characteristic facies, poikiloderma, absent right thumb and hyperplastic left thumb. The family history is negative. The biopsy was taken ante-mortem in 1973 from skin on the mesial aspect of the arm. The cell morphology is fibroblastlike. The karyotype is 46,XY; normal diploid male with 14% of cells examined showing chromosome breakage. The donor subject is a compound heterozygote for two frameshift mutations in the RECQL4 gene: one allele carries a 2 bp deletion at nucleotide position 2492 (2-BP DEL, NT2492) and the second allele has a G-to-T transversion at the junction of intron 12 and exon 13 that destroys the splicing acceptor sequence (IVS12AS, G>T, -1). The legacy karyotype description shown in this Remark may not be representative of the current available product. Researchers purchasing hiPSCs from the NIA 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.

Characterizations

Passage Frozen

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)].