GM16375
LCL from B-Lymphocyte
Description:
BLOOM SYNDROME; BLM
RECQ PROTEIN-LIKE 3; RECQL3
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Heritable Diseases Hereditary Cancers |
Class |
Repair Defective and Chromosomal Instability Syndromes |
Class |
Syndromes with Increased Chromosome Breakage |
Biopsy Source
|
Peripheral vein
|
Cell Type
|
B-Lymphocyte
|
Tissue Type
|
Blood
|
Transformant
|
Epstein-Barr Virus
|
Sample Source
|
LCL from B-Lymphocyte
|
Race
|
White
|
Ethnicity
|
FRENCH CANADIAN
|
Relation to Proband
|
proband
|
Confirmation
|
Molecular characterization before cell line submission to CCR
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
|
Gene |
RECQL3 |
Chromosomal Location |
15q26.1 |
Allelic Variant 1 |
S595X; BLOOM SYNDROME |
Identified Mutation |
SER595TER |
|
Gene |
RECQL3 |
Chromosomal Location |
15q26.1 |
Allelic Variant 2 |
S595X; BLOOM SYNDROME |
Identified Mutation |
SER595TER |
Cytogenetics |
Chromosome 1: TRANSLOCATION Breakpoint 1p36 t(1;14)1p36 |
Remarks |
Clinically affected; B.S. Registry #81; born at term; birth weight = 1,800 grams; at age 13 months: weight = 5.6 kg, height = 64 cm; at age 7 years height and weight below 3rd percentile; butterfly rash on cheeks; syndactyly of right fourth and fifth toes; long, narrow face with long philtrum; low normal immunoglobulins; increased chromosome breakage; increased sister chromatid exchange; donor subject is homozygous for a C>A transversion at nucleotide 1784 of the RECQL3 gene [1784C>A] resulting in a substitution of a termination signal for serine at codon 595 [Ser595Ter (S595X)]; parents are second cousins once removed; this line was developed as clone of GM03509 by limited dilution. |
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 |
|
Killen MW, Stults DM, Wilson WA, Pierce AJ, Escherichia coli RecG functionally suppresses human Bloom syndrome phenotypes BMC molecular biology13:33 2012 |
PubMed ID: 23110454 |
|
German J, Sanz MM, Ciocci S, Ye TZ, Ellis NA, Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome Registry Human mutation28:743-53 2007 |
PubMed ID: 17407155 |
|
German J, Bloom D, Passarge E, Bloom's syndrome. VII. Progress report for 1978. Clin Genet15:361-7 1979 |
PubMed ID: 436333 |
Split Ratio |
1:3 |
Temperature |
37 C |
Percent CO2 |
5% |
Percent O2 |
AMBIENT |
Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
Serum |
15% fetal bovine serum Not Inactivated |
Substrate |
None specified |
Subcultivation Method |
dilution - add fresh medium |
Supplement |
- |
|
|