| Cell line name |
GM02520 |
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| Synonyms |
GM-2520; GM 2520; GM2520; GM02520A; HG1289 |
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| Accession |
CVCL_U704 |
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| Resource Identification Initiative |
To cite this cell line use: GM02520 (RRID:CVCL_U704) |
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| Comments |
Population: Caucasian.
Omics: miRNA expression profiling.
Omics: Transcriptome analysis by microarray.
Donor information: From Bloom Syndrome Registry patient 20(ViSh) (BSR20).
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620. |
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| Sequence variations |
- Mutation; HGNC; 1058; BLM; Simple; p.Val942fs (c.2824-1077_2999+310del1583); Zygosity=Heterozygous (PubMed=17407155; Coriell=GM02520).
- Mutation; HGNC; 1058; BLM; Simple; p.Gln975Lysfs*24 (c.2923delC); ClinVar=VCV000042076; Zygosity=Heterozygous (PubMed=17407155; Coriell=GM02520).
|
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| Disease |
Bloom syndrome (NCIt: C2903)
Bloom syndrome (ORDO: Orphanet_125) |
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| Species of origin |
Homo sapiens (Human)
(NCBI Taxonomy: 9606) |
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| Sex of cell |
Female |
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| Age at sampling |
10Y |
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| Category |
Finite cell line |
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| Publications | PubMed=908169; DOI=10.1111/j.1399-0004.1977.tb00919.x
German J.L. 3rd, Bloom D., Passarge E.
Bloom's syndrome. V. Surveillance for cancer in affected families.
Clin. Genet. 12:162-168(1977) PubMed=436333; DOI=10.1111/j.1399-0004.1979.tb01747.x
German J.L. 3rd, Bloom D., Passarge E.
Bloom's syndrome. VII. Progress report for 1978.
Clin. Genet. 15:361-367(1979) CLPUB00387
Coriell L.L., Greene A.E., Mulivor R.A.
The human genetic mutant cell repository: list of genetic variants, chromosomal aberrations and normal cell cultures submitted to the repository. 7th edition. October 1980.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 80-2011; pp.1-254; National Institutes of Health; Bethesda; USA (1980) CLPUB00447
Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992) PubMed=17407155; DOI=10.1002/humu.20501
German J.L. 3rd, Sanz M.M., Ciocci S., Ye T.-Z., Ellis N.A.
Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome Registry.
Hum. Mutat. 28:743-753(2007) |
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| Cross-references |
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| Cell line collections (Providers) |
Coriell; GM02520
|
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| Cell line databases/resources |
CLO; CLO_0033253
|
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| Encyclopedic resources |
Wikidata; Q54837525
|
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| Gene expression databases |
GEO; GSM1316976
GEO; GSM1317014
|
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| Entry history |
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| Entry creation | 16-Apr-2014 |
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| Last entry update | 30-Jan-2024 |
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| Version number | 19 |
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