AG18376

AG18376 LCL from B-Lymphocyte

Description:

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

Affected:

No

Sex:

Female

Age:

53 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

White

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; two affected sons; one affected son is AG18375 (fibroblast)/AG18374 (LCL); AG18459 is a fibroblast culture from the same donor; the donor subject is heterozygous for a splicing mutation in the RECQL4 gene: in allele one at nucleotide g.2626 there is a G>A substitution (g.2626G>A) in exon 8. The karyotype is 46,XX. 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.2626G>A

Phenotypic Data

Remarks

Publications

Caballero M, Ge T, Rebelo AR, Seo S, Kim S, Brooks K, Zuccaro M, Kanagaraj R, Vershkov D, Kim D, Smogorzewska A, Smolka M, Benvenisty N, West SC, Egli D, Mace EM, Koren A, Comprehensive analysis of DNA replication timing across 184 cell lines suggests a role for MCM10 in replication timing regulation Human molecular genetics: 2021

PubMed ID: 35394024