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Cellosaurus HSC 230 (CVCL_AK39)

[Text version]

Cell line name HSC 230
Synonyms HSC-230; HSC230; GM13071; GM13071A
Accession CVCL_AK39
Secondary accession CVCL_G043
Resource Identification Initiative To cite this cell line use: HSC 230 (RRID:CVCL_AK39)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from sampling site: Peripheral blood.
Sequence variations Mutation; HGNC; 1101; BRCA2; Simple; p.Ala938Profs*21 (c.2808_2811del) (3033delAAAC) (3036delACAA); ClinVar=VCV000009322; Zygosity=Heterozygous (PubMed=12065746).
Mutation; HGNC; 1101; BRCA2; Simple; p.Lys3326Ter (c.9976A>T) (10204A>T); ClinVar=VCV000038266; Zygosity=Heterozygous (PubMed=12065746).
Disease Fanconi anemia, complementation group B (NCIt: C125703)
Fanconi anemia (ORDO: Orphanet_84)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 3Y
Category Transformed cell line

Ishida R., Buchwald M.
Susceptibility of Fanconi's anemia lymphoblasts to DNA-cross-linking and alkylating agents.
Cancer Res. 42:4000-4006(1982)

PubMed=7994019; DOI=10.1182/blood.V84.12.3995.bloodjournal84123995
Liu J.M., Buchwald M., Walsh C.E., Young N.S.
Fanconi anemia and novel strategies for therapy.
Blood 84:3995-4007(1994)

PubMed=12065746; DOI=10.1126/science.1073834
Howlett N.G., Taniguchi T., Olson S., Cox B., Waisfisz Q., De Die-Smulders C., Persky N., Grompe M., Joenje H., Pals G., Ikeda H., Fox E.A., D'Andrea A.D.
Biallelic inactivation of BRCA2 in Fanconi anemia.
Science 297:606-609(2002)

PubMed=16166284; DOI=10.1158/0008-5472.CAN-04-1198
Araten D.J., Golde D.W., Zhang R.H., Thaler H.T., Gargiulo L., Notaro R., Luzzatto L.
A quantitative measurement of the human somatic mutation rate.
Cancer Res. 65:8111-8117(2005)

Cell line collections Coriell; GM13071
Ontologies CLO; CLO_0013842
Biological sample resources BioSample; SAMN00802085
Other Wikidata; Q54896370
Entry history
Entry creation02-May-2016
Last entry update20-May-2021
Version number12