| Cell line name |
GM03509 |
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| Synonyms |
GM3509; GM03509A; HG1219; HG3006 |
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| Accession |
CVCL_U694 |
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| Resource Identification Initiative |
To cite this cell line use: GM03509 (RRID:CVCL_U694) |
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| Comments |
Population: Caucasian; French Canadian.
Donor information: From Bloom Syndrome Registry patient 81(MaGrou) (BSR81).
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; HGNC:1058; BLM; Simple; p.Ser595Ter (c.1784C>A); ClinVar=VCV000820081; Zygosity=Homozygous (from autologous cell line GM16375).
|
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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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| Hierarchy |
Children:
|
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| Originate from same individual |
CVCL_7651 ! GM16375 |
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| Sex of cell |
Male |
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| Age at sampling |
7Y |
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| Category |
Finite cell line |
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| Publications | PubMed=436333; DOI=10.1111/j.1399-0004.1979.tb01747.x
James Lafayette German 3rd, David Bloom, Eberhard Passarge;
Bloom's syndrome. VII. Progress report for 1978.
Clin. Genet. 15:361-367(1979) CLPUB00387
Lewis Lemon Coriell, Arthur E. Greene, Richard A. Mulivor;
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
Richard A. Mulivor, Sharon F. Suchy;
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=10655550; DOI=10.1093/hmg/9.3.403
Michel M. Ouellette, Lisa D. McDaniel, Woodring Erik Wright, Jerry W. Shay, Roger A. Schultz;
The establishment of telomerase-immortalized cell lines representing human chromosome instability syndromes.
Hum. Mol. Genet. 9:403-411(2000) |
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| Cross-references |
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| Cell line collections (Providers) |
Coriell; GM03509 - Discontinued
|
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| Encyclopedic resources |
Wikidata; Q54838109
|
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| Entry history |
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| Entry creation | 16-Apr-2014 |
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| Last entry update | 19-Dec-2024 |
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| Version number | 16 |
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