AG18372

AG18372 LCL from B-Lymphocyte

Description:

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

Affected:

No

Sex:

Female

Age:

42 YR (At Sampling)

Overview

Repository

NIA Aging Cell Culture Repository

Subcollection

Heritable Diseases

Biopsy Source

Peripheral vein

Cell Type

B-Lymphocyte

Tissue Type

Blood

Transformant

Epstein-Barr Virus

Sample Source

LCL from B-Lymphocyte

Race

Hispanic/Latino

Ethnicity

MEXICAN

Family Member

Relation to Proband

mother

Confirmation

Molecular characterization before cell line submission to CCR

ISCN

46,XX

Species

Homo sapiens

Common Name

Human

Remarks

Clinically unaffected; affected son is AG18371 (fibroblast); AG18373 is a fibroblast culture from the same donor; the donor subject is heterozygous 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. The karyotype is 46,XX with 8% of the cells examined showing random chromosome loss/gain. The legacy karyotype description shown in this Remark may not be representative of the current available product.

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis

Gene

RECQL4

Chromosomal Location

8q24.3

Allelic Variant 1

; ROTHMUND-THOMSON SYNDROME

Identified Mutation

g.2746del11

Phenotypic Data

Remarks

Publications

Wang LL, Worley K, Gannavarapu A, Chintagumpala MM, Levy ML, Plon SE, Intron-size constraint as a mutational mechanism in Rothmund-Thomson syndrome. Am J Hum Genet71(1):165-7 2002

PubMed ID: 12016592