NG06040
DNA from Fibroblast
Description:
BLOOM SYNDROME; BLM
RECQ PROTEIN-LIKE 3; RECQL3
NIA AGING CELL REPOSITORY DNA PANEL - CHARACTERIZED MUTATIONS
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Repository
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NIA Aging Cell Culture Repository
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| Subcollection |
Heritable Diseases |
| Class |
Repair Defective and Chromosomal Instability Syndromes |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Skin
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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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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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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 |
5.6 |
| Passage Frozen |
11 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
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| Gene |
RECQL3 |
| Chromosomal Location |
15q26.1 |
| Allelic Variant 1 |
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. |
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| 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. |
| Remarks |
Donor, B.S. Registry #42, of Ashkenazi background, is clinically affected. Clinical features include short stature, elongated facies and adenocarcinoma of colon. Biopsy was taken ante-mortem on 11/21/80. The cell morphology is fibroblast-like. The karyotype is 46,XX; normal diploid female. An increased frequency of sister chromatid exchanges was found in cells and confirms the diagnosis. The donor subject is homozygous for a 6-bp deletion/7-bp insertion at nucleotide 2281 of the open reading frame of RECQL3; results in a frameshift and a stop codon at 2292. The legacy karyotype description shown in this Remark may not be representative of the current available product. |
| Ellis NA, Groden J, Ye TZ, Straughen J, Lennon DJ, Ciocci S, Proytcheva M, German J, The Bloom's syndrome gene product is homologous to RecQ helicases. Cell83:655-66 1995 |
| PubMed ID: 7585968 |
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