ID   AP2F
AC   CVCL_ZY21
SY   AP02F
DR   JCRB; KURB1485
DR   Wikidata; Q102113526
RX   PubMed=10807541;
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:3588; FANCG; Simple; p.Gln356Ter (c.1066C>T); ClinVar=VCV000006715; Zygosity=Heterozygous (PubMed=10807541).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   Adult
CA   Finite cell line
DT   Created: 29-10-20; Last updated: 19-12-24; Version: 7
//
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).
//