ID   AP68P
AC   CVCL_ZX08
DR   JCRB; KURB1455
DR   Wikidata; Q102113565
RX   DOI=10.1007/0-387-33776-8_11;
RX   PubMed=10807541;
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:3582; FANCA; Simple; p.Arg435Cys (c.1303C>T); ClinVar=VCV000555603; Zygosity=Heterozygous (DOI=10.1007/0-387-33776-8_11; PubMed=10807541).
CC   Sequence variation: Mutation; HGNC; HGNC:3582; FANCA; Simple; p.Ser849Phefs*40 (c.2546delC); ClinVar=VCV000408166; Zygosity=Heterozygous (DOI=10.1007/0-387-33776-8_11; PubMed=10807541).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C125702; Fanconi anemia, complementation group A
DI   ORDO; Orphanet_84; Fanconi anemia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   2Y
CA   Finite cell line
DT   Created: 29-10-20; Last updated: 19-12-24; Version: 7
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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).
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RX   PubMed=10807541; DOI=10.1007/s100380050203;
RA   Yamada T., Tachibana A., Shimizu T., Mugishima H., Okubo M.,
RA   Sasaki M.S.;
RT   "Novel mutations of the FANCG gene causing alternative splicing in
RT   Japanese Fanconi anemia.";
RL   J. Hum. Genet. 45:159-166(2000).
//