ID   FA-AML1A
AC   CVCL_JH26
SY   KH-AML
DR   cancercelllines; CVCL_JH26
DR   JCRB; JCRB3043
DR   JCRB; KURB2758
DR   Wikidata; Q54899857
RX   PubMed=12750298;
CC   Population: Japanese.
CC   Characteristics: CSF2 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.Ser2835Ter (c.8504C>G) (8732C>A); ClinVar=VCV000267091; Zygosity=Heterozygous; Note=Mutated. This cell line contains both the mutated allele and the reverted allele (PubMed=12750298).
CC   Sequence variation: Mutation; HGNC; 1101; BRCA2; Simple; p.Ser2835Glu (c.8503_8504TC>GA) (8731TC>GA); Zygosity=Heterozygous; Note=Reverted. This cell line contains both the mutated allele and the reverted allele (PubMed=12750298).
CC   Discontinued: JCRB; KURB2758; probable.
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
ST   Source(s): JCRB
ST   Amelogenin: X,Y
ST   CSF1PO: 11
ST   D13S317: 9,12
ST   D16S539: 9
ST   D5S818: 12,13
ST   D7S820: 10,13
ST   TH01: 7,9
ST   TPOX: 8,11
ST   vWA: 17
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_A6IQ ! FA-AML1
OI   CVCL_A6IR ! FA-AML1C
SX   Male
AG   4Y
CA   Cancer cell line
DT   Created: 15-05-17; Last updated: 05-10-23; Version: 10
//
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).
//