AG28462

AG28462 iPSC from Fibroblast

Description:

ROTHMUND-THOMSON SYNDROME; RTS
RECQ PROTEIN-LIKE 4; RECQL4

Affected:

Yes

Sex:

Male

Age:

12 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

Hispanic/Latino

Ethnicity

MEXICAN

Family Member

Relation to Proband

proband

Confirmation

Molecular characterization before cell line submission to CCR

ISCN

46,XY[27]

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected; diagnosed with osteosarcoma at age 11 years; died at age 13 years of osteosarcoma; features of small stature; severe poikiloderma; sparse eyebrows and eyelashes; sister with RTS also died of metastatic osteosarcoma; product of a consanguineous mating; mother is AG18372 (LCL)/AG18373 (fibroblast); the donor subject is homozygous for a truncating mutation in the RECQL4 gene: an 11 bp deletion at nucleotide g.2746 (g.2746del11) in intron 8 which results in an intron that is too short to be efficiently spliced; stem cell line reprogrammed from parental fibroblast line AG18371. 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

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

; ROTHMUND-THOMSON SYNDROME

Identified Mutation

g.2746del11

Gene

RECQL4

Chromosomal Location

8q24.3