ID   KH-AML-B2
AC   CVCL_JK50
DR   cancercelllines; CVCL_JK50
DR   JCRB; KURB2759
DR   Wikidata; Q54899858
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 (from parent cell line).
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 (from parent cell line).
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 (from parent cell line).
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)
HI   CVCL_JH26 ! FA-AML1A
SX   Male
AG   4Y
CA   Cancer cell line
DT   Created: 15-05-17; Last updated: 05-10-23; Version: 9
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