GM16886
Fibroblast from Skin, Unspecified
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
|
Unspecified
|
|
Cell Type
|
Fibroblast
|
|
Tissue Type
|
Skin
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
Fibroblast from Skin, Unspecified
|
|
Race
|
White
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Molecular characterization before cell line submission to CCR
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
15 |
| |
| 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 |
Q700X; BLOOM SYNDROME |
| Identified Mutation |
GLN700TER |
| Remarks |
Clinically affected; B.S. Registry # 59; typical features; mean sister chromosome exchange level was 37.8 and the range was 24-49; donor subject has one allele with a C>T transition at nucleotide 2098 of the RECQL3 gene [2098C>T] resulting in a substitution of a termination signal for glutamine at codon 700 [Gln700Ter (Q700X)]. |
| 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, Passarge E, Bloom's syndrome. XII. Report from the Registry for 1987. Clin Genet35(1):57-69 1989 |
| PubMed ID: 2647324 |
| |
| German J, Bloom D, Passarge E, Bloom's syndrome XI. Progress report for 1983. Clin Genet25(2):166-174 1984 |
| PubMed ID: 6705251 |
| |
| German J, Bloom D, Passarge E, Bloom's syndrome. VII. Progress report for 1978. Clin Genet15:361-7 1979 |
| PubMed ID: 436333 |
| |
| German J, Bloom D, Passarge E, Bloom's syndrome. V. Surveillance for cancer in affected families. Clin Genet12:162-8 1977 |
| PubMed ID: 908169 |
| Passage Frozen |
15 |
| Split Ratio |
1:2 |
| Temperature |
37 C |
| Percent CO2 |
8% |
| Medium |
Dulbecco Modified Eagles Medium (high glucose) with 2mM L-glutamine or equivalent |
| Serum |
10% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
|
|