ID   FA9JTO
AC   CVCL_2896
SY   FA9P; FA9; Fanconi Anemia 9 Japan TOkyo
DR   BioSample; SAMN03470919
DR   JCRB; JCRB0314
DR   JCRB; KURB1460
DR   Wikidata; Q54833215
RX   DOI=10.1007/0-387-33776-8_11;
RX   PubMed=1180926;
RX   PubMed=7300843;
RX   PubMed=25877200;
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:3588; FANCG; Simple; c.307+1G>C (IVS3+1G>C); ClinVar=VCV000006714; Zygosity=Homozygous; Note=Splice donor mutation (DOI=10.1007/0-387-33776-8_11).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): JCRB=JCRB0314; PubMed=25877200
ST   Amelogenin: X,Y
ST   CSF1PO: 11,12
ST   D13S317: 9,12
ST   D16S539: 9,11
ST   D18S51: 13,16
ST   D19S433: 14,16.2
ST   D21S11: 29
ST   D2S1338: 23,24
ST   D3S1358: 16,18
ST   D5S818: 12
ST   D7S820: 11
ST   D8S1179: 10
ST   FGA: 23,24
ST   Penta D: 9,12
ST   Penta E: 14,16
ST   TH01: 9
ST   TPOX: 8,11
ST   vWA: 14
DI   NCIt; C125708; Fanconi anemia, complementation group G
DI   ORDO; Orphanet_84; Fanconi anemia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   7Y
CA   Finite cell line
DT   Created: 04-04-12; Last updated: 19-12-24; Version: 22
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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).
//
RX   PubMed=1180926; DOI=10.1016/0006-291x(75)90551-3;
RA   Fujiwara Y., Tatsumi M.;
RT   "Repair of mitomycin C damage to DNA in mammalian cells and its
RT   impairment in Fanconi's anemia cells.";
RL   Biochem. Biophys. Res. Commun. 66:592-598(1975).
//
RX   PubMed=7300843; DOI=10.1016/0027-5107(81)90123-8;
RA   Kano Y., Fujiwara Y.;
RT   "Roles of DNA interstrand crosslinking and its repair in the induction
RT   of sister-chromatid exchange and a higher induction in Fanconi's
RT   anemia cells.";
RL   Mutat. Res. 81:365-375(1981).
//
RX   PubMed=25877200; DOI=10.1038/nature14397;
RA   Yu M., Selvaraj S.K., Liang-Chu M.M.Y., Aghajani S., Busse M.,
RA   Yuan J., Lee G., Peale F.V., Klijn C., Bourgon R., Kaminker J.S.,
RA   Neve R.M.;
RT   "A resource for cell line authentication, annotation and quality
RT   control.";
RL   Nature 520:307-311(2015).
//