GM16890
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 |
5.8 |
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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 |
Q645X; BLOOM SYNDROME |
| Identified Mutation |
GLN645TER |
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| Gene |
RECQL3 |
| Chromosomal Location |
15q26.1 |
| Allelic Variant 2 |
Q645X; BLOOM SYNDROME |
| Identified Mutation |
GLN645TER |
| Remarks |
Clinically affected; B.S. Registry #133; 24% chromosomal breakage including quadriradials and rings; 10 fold increase in sister chromosome exchange levels; donor subject is homozygous for a C>T transition at nucleotide 1933 of the RECQL3 gene [1933C>T] resulting in a substitution of a termination signal for glutamine at codon 645 [Gln645Ter (Q645X)]. |
| 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, Passarge E, Bloom's syndrome. XII. Report from the Registry for 1987. Clin Genet35(1):57-69 1989 |
| PubMed ID: 2647324 |
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| German J, Bloom D, Passarge E, Bloom's syndrome XI. Progress report for 1983. Clin Genet25(2):166-174 1984 |
| PubMed ID: 6705251 |
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| German J, Bloom D, Passarge E, Bloom's syndrome. VII. Progress report for 1978. Clin Genet15:361-7 1979 |
| PubMed ID: 436333 |
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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 |
| Split Ratio |
1:3 |
| 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 |
None specified |
| Supplement |
- |
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