ID   FA-AML1
AC   CVCL_A6IQ
DR   cancercelllines; CVCL_A6IQ
DR   Wikidata; Q107114945
RX   PubMed=12750298;
CC   Population: Japanese.
CC   Characteristics: CSF2 and IL3 dependent.
CC   Sequence variation: Mutation; HGNC; 1101; BRCA2; Simple; p.Lys2729Asn (c.8187G>T) (8415G>T); ClinVar=VCV000038142; Zygosity=Heterozygous (PubMed=12750298).
CC   Sequence variation: Mutation; HGNC; 1101; BRCA2; Simple; p.Ser2835Glu (c.8503_8504TC>GA) (8731TC>GA); Zygosity=Heterozygous; Note=Reverted (PubMed=12750298).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C9160; Childhood acute myeloid leukemia
DI   NCIt; C62505; Fanconi anemia
DI   ORDO; Orphanet_519; Acute myeloid leukemia
DI   ORDO; Orphanet_84; Fanconi anemia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_JH25 ! AP37P
OI   CVCL_WD00 ! AP37P(L)
OI   CVCL_JH26 ! FA-AML1A
OI   CVCL_A6IR ! FA-AML1C
SX   Male
AG   4Y
CA   Cancer cell line
DT   Created: 20-05-21; Last updated: 05-10-23; Version: 5
//
RX   PubMed=12750298;
RA   Ikeda H., Matsushita M., Waisfisz Q., Kinoshita A., Oostra A.B.,
RA   Nieuwint A.W.M., de Winter J.P., Hoatlin M.E., Kawai Y., Sasaki M.S.,
RA   D'Andrea A.D., Kawakami Y., Joenje H.;
RT   "Genetic reversion in an acute myelogenous leukemia cell line from a
RT   Fanconi anemia patient with biallelic mutations in BRCA2.";
RL   Cancer Res. 63:2688-2694(2003).
//