ID   SB1685CB
AC   CVCL_UI93
DR   cancercelllines; CVCL_UI93
DR   Wikidata; Q98129342
RX   PubMed=15645491;
CC   Sequence variation: Mutation; HGNC; HGNC:1101; BRCA2; Simple; c.631+2T>G (IVS7+2T>G); ClinVar=VCV000009349; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=15645491).
CC   Sequence variation: Mutation; HGNC; HGNC:1101; BRCA2; Simple; p.Cys1200Terfs (c.3599_3600delGT) (3827delGT); Zygosity=Heterozygous (PubMed=15645491).
CC   Derived from site: In situ; Bone marrow; UBERON=UBERON_0002371.
DI   NCIt; C9160; Childhood acute myeloid leukemia
DI   NCIt; C125705; Fanconi anemia, complementation group D1
DI   ORDO; Orphanet_519; Acute myeloid leukemia
DI   ORDO; Orphanet_84; Fanconi anemia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_UI92 ! AV036
OI   CVCL_UI94 ! SB1690CB
SX   Male
AG   2Y1M
CA   Cancer cell line
DT   Created: 25-02-19; Last updated: 19-12-24; Version: 10
//
RX   PubMed=15645491; DOI=10.1002/gcc.20153;
RA   Meyer S., Fergusson W.D., Oostra A.B., Medhurst A.L., Waisfisz Q.,
RA   de Winter J.P., Chen F., Carr T.F., Clayton-Smith J., Clancy T.,
RA   Green M., Barber L., Eden O.B., Will A.M., Joenje H., Taylor G.M.;
RT   "A cross-linker-sensitive myeloid leukemia cell line from a 2-year-old
RT   boy with severe Fanconi anemia and biallelic FANCD1/BRCA2 mutations.";
RL   Genes Chromosomes Cancer 42:404-415(2005).
//