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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 site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:1101; BRCA2; Simple; p.Ala938Profs*21 (c.2808_2811del) (3033delAAAC) (3036delACAA); ClinVar=VCV000009322; Zygosity=Heterozygous (PubMed=12065746).
  • Mutation; HGNC; 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
Publications

PubMed=6809308
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.E.M., 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)

Cross-references
Cell line collections (Providers) Coriell; GM13071
Cell line databases/resources CLO; CLO_0013842
Biological sample resources BioSample; SAMN00802085
Encyclopedic resources Wikidata; Q54896370
Entry history
Entry creation02-May-2016
Last entry update19-Dec-2024
Version number15