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Cellosaurus GM03509 (CVCL_U694)

[Text version]
Cell line name GM03509
Synonyms GM3509; GM03509A; HG1219; HG3006
Accession CVCL_U694
Resource Identification Initiative To cite this cell line use: GM03509 (RRID:CVCL_U694)
Comments Population: Caucasian; French Canadian.
Donor information: From Bloom Syndrome Registry patient 81(MaGrou) (BSR81).
Derived from sampling site: Skin. Cell type=Fibroblast.
Sequence variations
  • Mutation; HGNC; 1058; BLM; Simple; p.Ser595Ter (c.1784C>A); ClinVar=VCV000820081; Zygosity=Homozygous (from autologous cell line GM16375).
Disease Bloom syndrome (NCIt: C2903)
Bloom syndrome (ORDO: Orphanet_125)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
Originate from same individual CVCL_7651 ! GM16375
Sex of cell Male
Age at sampling 7Y
Category Finite cell line

PubMed=436333; DOI=10.1111/j.1399-0004.1979.tb01747.x
German J.L. III, Bloom D., Passarge E.
Bloom's syndrome. VII. Progress report for 1978.
Clin. Genet. 15:361-367(1979)

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) Institute for Medical Research (Camden, N.J.) NIH 80-2011; pp.1-254; National Institutes of Health; Bethesda (1980)

Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992)

PubMed=10655550; DOI=10.1093/hmg/9.3.403
Ouellette M.M., McDaniel L.D., Wright W.E., Shay J.W., Schultz R.A.
The establishment of telomerase-immortalized cell lines representing human chromosome instability syndromes.
Hum. Mol. Genet. 9:403-411(2000)

Cell line collections Coriell; GM03509 - Discontinued
Encyclopedic resources Wikidata; Q54838109
Entry history
Entry creation16-Apr-2014
Last entry update21-Mar-2023
Version number14