ID   FA18JTO
AC   CVCL_2895
SY   FA18P; Fanconi Anemia 18 Japan TOkyo
DR   BioSample; SAMN03470923
DR   JCRB; JCRB0315
DR   JCRB; KURB1386
DR   Wikidata; Q54833174
RX   DOI=10.1007/0-387-33776-8_11;
RX   PubMed=25877200;
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:3582; FANCA; Simple; c.1811delT; Zygosity=Heterozygous (DOI=10.1007/0-387-33776-8_11).
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).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): JCRB=JCRB0315; PubMed=25877200
ST   Amelogenin: X,Y
ST   CSF1PO: 10,14
ST   D13S317: 8,10
ST   D16S539: 11
ST   D18S51: 14,16
ST   D19S433: 13,14
ST   D21S11: 30
ST   D2S1338: 17,18
ST   D3S1358: 15,17
ST   D5S818: 11,13
ST   D7S820: 11
ST   D8S1179: 13,16
ST   FGA: 21,22
ST   Penta D: 11,13
ST   Penta E: 8,11
ST   TH01: 6,9
ST   TPOX: 11
ST   vWA: 16,18
DI   NCIt; C125702; Fanconi anemia, complementation group A
DI   ORDO; Orphanet_84; Fanconi anemia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   Age unspecified
CA   Finite cell line
DT   Created: 04-04-12; Last updated: 19-12-24; Version: 21
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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=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).
//