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Cellosaurus FA-AML1 (CVCL_A6IQ)

[Text version]
Cell line name FA-AML1
Accession CVCL_A6IQ
Resource Identification Initiative To cite this cell line use: FA-AML1 (RRID:CVCL_A6IQ)
Comments Population: Japanese.
Characteristics: CSF2 and IL3 dependent.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:1101; BRCA2; Simple; p.Lys2729Asn (c.8187G>T) (8415G>T); ClinVar=VCV000038142; Zygosity=Heterozygous (PubMed=12750298).
  • Mutation; HGNC; HGNC:1101; BRCA2; Simple; p.Ser2835Glu (c.8503_8504TC>GA) (8731TC>GA); Zygosity=Heterozygous; Note=Reverted (PubMed=12750298).
Disease Childhood acute myeloid leukemia (NCIt: C9160)
Fanconi anemia (NCIt: C62505)
Acute myeloid leukemia (ORDO: Orphanet_519)
Fanconi anemia (ORDO: Orphanet_84)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_JH25 ! AP37P
CVCL_WD00 ! AP37P(L)
CVCL_JH26 ! FA-AML1A
CVCL_A6IR ! FA-AML1C
Sex of cell Male
Age at sampling 4Y
Category Cancer cell line
Publications

PubMed=12750298
Ikeda H., Matsushita M., Waisfisz Q., Kinoshita A., Oostra A.B., Nieuwint A.W.M., de Winter J.P., Hoatlin M.E., Kawai Y., Sasaki M.S., D'Andrea A.D., Kawakami Y., Joenje H.
Genetic reversion in an acute myelogenous leukemia cell line from a Fanconi anemia patient with biallelic mutations in BRCA2.
Cancer Res. 63:2688-2694(2003)

Cross-references
Cell line databases/resources cancercelllines; CVCL_A6IQ
Encyclopedic resources Wikidata; Q107114945
Entry history
Entry creation20-May-2021
Last entry update19-Dec-2024
Version number6