| Cell line name |
GM01620 |
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| Synonyms |
GM-1620; GM 1620; GM1620; AG01620; AG1620; HG916 |
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| Accession |
CVCL_JD73 |
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| Resource Identification Initiative |
To cite this cell line use: GM01620 (RRID:CVCL_JD73) |
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| Comments |
Population: Jewish; Ashkenazi.
Donor information: From Bloom Syndrome Registry patient 53(StAs) (BSR53).
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.Tyr736Leufs*5 (c.2207_2212delATCTGAinsTAGATTC) (2281del6ins7) (BLMAsh); ClinVar=VCV000005454; Zygosity=Homozygous (from autologous cell lines GM02085; HG1947).
|
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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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| Originate from same individual |
CVCL_U703 ! GM02085
CVCL_WX73 ! HG1947 |
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| Sex of cell |
Female |
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| Age at sampling |
8M |
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| Category |
Finite cell line |
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| Publications | DOI=10.5962/bhl.title.4090
Coriell L.L., Greene A.E.
The human genetic mutant cell repository: list of genetic variants, chromosomal aberrations and normal cell cultures submitted to the repository. 4th edition. October 1977.
(In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977) 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) PubMed=7471106
Arlett C.F., Harcourt S.A.
Survey of radiosensitivity in a variety of human cell strains.
Cancer Res. 40:926-932(1980) PubMed=7253718; DOI=10.1016/0047-6374(81)90027-0
Das N.K., Murphy D.G.
The National Institute on Aging repository cell cultures.
Mech. Ageing Dev. 16:1-17(1981) |
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| Cross-references |
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| Cell line collections (Providers) |
Coriell; AG01620 - Discontinued
Coriell; GM01620 - Discontinued
|
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| Encyclopedic resources |
Wikidata; Q54836952
|
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| Entry history |
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| Entry creation | 15-May-2017 |
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| Last entry update | 19-Dec-2024 |
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| Version number | 15 |
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