GM16883
Fibroblast from Skin, Unspecified
Description:
BLOOM SYNDROME; BLM
RECQ PROTEIN-LIKE 3; RECQL3
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Hereditary Cancers |
| Class |
Repair Defective and Chromosomal Instability Syndromes |
| Class |
Syndromes with Increased Chromosome Breakage |
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Biopsy Source
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Unspecified
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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Transformant
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Untransformed
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Sample Source
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Fibroblast from Skin, Unspecified
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Race
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White
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Relation to Proband
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proband
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Confirmation
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Molecular characterization before cell line submission to CCR
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| PDL at Freeze |
4.41 |
| Passage Frozen |
13 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Gene |
RECQL3 |
| Chromosomal Location |
15q26.1 |
| Allelic Variant 1 |
Q672R; BLOOM SYNDROME |
| Identified Mutation |
GLN672ARG |
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| Gene |
RECQL3 |
| Chromosomal Location |
15q26.1 |
| Allelic Variant 2 |
; BLOOM SYNDROME |
| Identified Mutation |
IVS5-2A>G |
| Remarks |
Clinically affected; B.S. Registry # 31; born at term; birth weight = 1,980 grams; at age 8.2 years: weight = 13.1 kg, height = 105 cm, head circumference = 46 cm; sun sensitive facial telangiectasias; 12% of cells showed chromosome breakage; 6-10 fold increase in sister chromosome exchange levels in both lymphocytes and fibroblasts; donor subject is a compound heterozygote: one allele has an A>G transition at nucleotide 2015 of the RECQL3 gene [2015A>G] resulting in a substitution of arginine for glutamine at codon 672 [Gln672Arg (Q672R)] and the second allele has an A>G transition in intron 5 of the RECQL3 gene [IVS5-2A>G]. |
| 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 |
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| German J, Bloom D, Passarge E, Bloom's syndrome. V. Surveillance for cancer in affected families. Clin Genet12:162-8 1977 |
| PubMed ID: 908169 |
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| Hooft C, Lannoo R, Van Acker KJ, Congenital telangiectasic erythema with growth retardation (Bloom's syndrome). Acta Paediatr Belg21(5):353-370 1967 |
| PubMed ID: 6082754 |
| Passage Frozen |
13 |
| Split Ratio |
1:2 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
3% |
| Medium |
Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
Gelatin |
| Supplement |
- |
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