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Cellosaurus FA-AML1A (CVCL_JH26)

[Text version]
Cell line name FA-AML1A
Synonyms KH-AML
Accession CVCL_JH26
Resource Identification Initiative To cite this cell line use: FA-AML1A (RRID:CVCL_JH26)
Comments Population: Japanese.
Characteristics: CSF2 dependent.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 1101; BRCA2; Simple; p.Lys2729Asn (c.8187G>T) (8415G>T); ClinVar=VCV000038142; Zygosity=Heterozygous (PubMed=12750298).
  • 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).
  • 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).
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)
Hierarchy Children:
CVCL_JK50 (KH-AML-B2)
Originate from same individual CVCL_JH25 ! AP37P
CVCL_WD00 ! AP37P(L)
CVCL_A6IQ ! FA-AML1
CVCL_A6IR ! FA-AML1C
Sex of cell Male
Age at sampling 4Y
Category Cancer cell line
STR profile Source(s): JCRB

Markers:
AmelogeninX,Y
CSF1PO11
D5S81812,13
D7S82010,13
D13S3179,12
D16S5399
TH017,9
TPOX8,11
vWA17

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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 collections (Providers) JCRB; JCRB3043
JCRB; KURB2758 - Discontinued
Cell line databases/resources cancercelllines; CVCL_JH26
Encyclopedic resources Wikidata; Q54899857
Entry history
Entry creation15-May-2017
Last entry update05-Oct-2023
Version number10