AG18374

AG18374 LCL from B-Lymphocyte

Description:

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

Affected:

Yes

Sex:

Male

Age:

22 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

proband

Confirmation

Molecular characterization before cell line submission to CCR

ISCN

46,XY

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected; diagnosed with osteosarcoma at age 21 years; small stature; severe poikiloderma; sparse eyebrows, eyelashes and hair; brother had RTS and died of metastatic osteosarcoma; donor is the son of AG18376/AG18459 (mother) and AG18377 (father); AG18375 is a fibroblast culture from the same donor; the donor subject is a compound heterozygote; in allele one at nucleotide g.2626 there is a G>A substitution (g.2626G>A) in exon 8 of the RECQL4 gene which leads to disrupted splicing; in allele two there is a 1 bp deletion at g.2886 (g.2886delT) in exon 9 of the RECQL4 gene which leads to a truncation. The karyotype is 46,XY with 2% of the cells examined showing random chromosome loss and 6% showing random chromosomal aberrations. 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

Gene

RECQL4

Chromosomal Location

8q24.3

Allelic Variant 2

; ROTHMUND-THOMSON SYNDROME

Identified Mutation

g.2886delT

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

Wang LL, Gannavarapu A, Kozinetz CA, Levy ML, Lewis RA, Chintagumpala MM, Ruiz-Maldanado R, Contreras-Ruiz J, Cunniff C, Erickson RP, Lev D, Rogers M, Zackai EH, Plon SE, Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome. J Natl Cancer Inst95(9):669-74 2003

PubMed ID: 12734318

Lindor NM, Furuichi Y, Kitao S, Shimamoto A, Arndt C, Jalal S, Rothmund-Thomson syndrome due to RECQ4 helicase mutations: report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome. Am J Med Genet90(3):223-8 2000

PubMed ID: 10678659