ID   HSC 230
AC   CVCL_AK39
AS   CVCL_G043
SY   HSC-230; HSC230; GM13071; GM13071A
DR   CLO; CLO_0013842
DR   BioSample; SAMN00802085
DR   Coriell; GM13071
DR   Wikidata; Q54896370
RX   PubMed=6809308;
RX   PubMed=7994019;
RX   PubMed=12065746;
RX   PubMed=16166284;
CC   Sequence variation: Mutation; HGNC; 1101; BRCA2; Simple; p.Ala938Profs*21 (c.2808_2811del) (3033delAAAC) (3036delACAA); ClinVar=VCV000009322; Zygosity=Heterozygous (PubMed=12065746).
CC   Sequence variation: Mutation; HGNC; 1101; BRCA2; Simple; p.Lys3326Ter (c.9976A>T) (10204A>T); ClinVar=VCV000038266; Zygosity=Heterozygous (PubMed=12065746).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C125703; Fanconi anemia, complementation group B
DI   ORDO; Orphanet_84; Fanconi anemia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   3Y
CA   Transformed cell line
DT   Created: 02-05-16; Last updated: 29-06-23; Version: 14
//
RX   PubMed=6809308;
RA   Ishida R., Buchwald M.;
RT   "Susceptibility of Fanconi's anemia lymphoblasts to DNA-cross-linking
RT   and alkylating agents.";
RL   Cancer Res. 42:4000-4006(1982).
//
RX   PubMed=7994019; DOI=10.1182/blood.V84.12.3995.bloodjournal84123995;
RA   Liu J.M., Buchwald M., Walsh C.E., Young N.S.;
RT   "Fanconi anemia and novel strategies for therapy.";
RL   Blood 84:3995-4007(1994).
//
RX   PubMed=12065746; DOI=10.1126/science.1073834;
RA   Howlett N.G., Taniguchi T., Olson S., Cox B., Waisfisz Q.,
RA   de Die-Smulders C.E.M., Persky N., Grompe M., Joenje H., Pals G.,
RA   Ikeda H., Fox E.A., D'Andrea A.D.;
RT   "Biallelic inactivation of BRCA2 in Fanconi anemia.";
RL   Science 297:606-609(2002).
//
RX   PubMed=16166284; DOI=10.1158/0008-5472.CAN-04-1198;
RA   Araten D.J., Golde D.W., Zhang R.H., Thaler H.T., Gargiulo L.,
RA   Notaro R., Luzzatto L.;
RT   "A quantitative measurement of the human somatic mutation rate.";
RL   Cancer Res. 65:8111-8117(2005).
//