ID   AP78P
AC   CVCL_JH20
DR   JCRB; JCRB3033
DR   JCRB; KURB1570
DR   Wikidata; Q54750298
RX   DOI=10.1007/0-387-33776-8_11;
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:3582; FANCA; Simple; c.1360_2014del (Ex15-22del); Zygosity=Homozygous (DOI=10.1007/0-387-33776-8_11).
CC   Discontinued: JCRB; KURB1570; probable.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): JCRB=JCRB3033
ST   Amelogenin: X,Y
ST   CSF1PO: 10,12
ST   D13S317: 8,11
ST   D16S539: 11,12
ST   D5S818: 10,11
ST   D7S820: 10
ST   TH01: 6,9
ST   TPOX: 8,10
ST   vWA: 14,18
DI   NCIt; C125702; Fanconi anemia, complementation group A
DI   ORDO; Orphanet_84; Fanconi anemia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   1Y
CA   Finite cell line
DT   Created: 15-05-17; Last updated: 19-12-24; Version: 12
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RX   DOI=10.1007/0-387-33776-8_11;
RA   Tachibana A.;
RT   "Mutational analyses of Fanconi anemia genes in Japanese patients.";
RL   (In book chapter) Molecular mechanisms of Fanconi anemia; Ahmad S.I., Kirk S.H. (eds.); pp.103-114; Springer; New York; USA (2006).
//