NA16891
DNA from Fibroblast
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 |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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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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DNA from Fibroblast
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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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| 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 # 169; elevated sister chromosome exchange; 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)]. |
| Johnson JE, Cao K, Ryvkin P, Wang LS, Johnson FB, Altered gene expression in the Werner and Bloom syndromes is associated with sequences having G-quadruplex forming potential Nucleic acids research38:1114-22 2009 |
| PubMed ID: 19966276 |
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