GM16882

GM16882 Fibroblast from Skin, Unspecified

Description:

BLOOM SYNDROME; BLM
RECQ PROTEIN-LIKE 3; RECQL3

Affected:

Yes

Sex:

Female

Age:

3 YR (At Sampling)

Overview

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

Unspecified

Cell Type

Fibroblast

Tissue Type

Skin

Transformant

Untransformed

Sample Source

Fibroblast from Skin, Unspecified

Race

White

Ethnicity

ASHKENAZI

Relation to Proband

proband

Confirmation

Molecular characterization before cell line submission to CCR

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected; B.S. Registry # 26; born at term; birth weight = 2,229 grams; at age 1.3 years: weight = 6.3 kg, height = 66 cm; at age 1 year head circumference = 40.8 cm; sun sensitive facial telangiectasias; sacral dimple; elevated chromosome breakage; elevated sister chromosome exchange level; one affected sister; donor is a compound heterozygote: one allele has a 1-bp deletion at nucleotide 3261 of the RECQL3 gene [3261delT] and a second allele has a 6-bp deletion/7-bp insertion [6-bp del/7-bp ins] at nucleotide 2,281 of the open reading frame of the RECQL3 gene, which results in a frameshift and a stop codon.

Characterizations

PDL at Freeze

5.32

Passage Frozen

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

; BLOOM SYNDROME

Identified Mutation

3261delT

Gene

RECQL3

Chromosomal Location

15q26.1

Allelic Variant 2

604610.0001; BLOOM SYNDROME

Identified Mutation

6-BP DEL/7-BP INS; In 4 ostensibly unrelated persons of Jewish ancestry, Ellis et al. [Cell 83: 655 (1995)] found homozygosity for a 6-bp deletion/7-bp insertion at nucleotide 2281 of the BLM cDNA. Deletion of ATCTGA and insertion of TAGATTC caused the insertion of the novel codons for LDSR after amino acid 736, and after these codons there was a stop codon. Ellis et al. [Cell 83: 655 (1995)] concluded that a person carrying this deletion/insertion mutation was a founder of the Ashkenazi-Jewish population, and that nearly all Ashkenazi Jews with Bloom syndrome inherited the mutation identical by descent from this common ancestor.