ID   BD-215
AC   CVCL_1857
SY   BD215
DR   CLO; CLO_0001907
DR   BioSample; SAMN03473577
DR   DSMZ; ACC-398
DR   DSMZCellDive; ACC-398
DR   Wikidata; Q54795734
RX   PubMed=7689011;
RX   PubMed=20454443;
CC   Doubling time: ~40-50 hours (DSMZ=ACC-398).
CC   Sequence variation: Mutation; HGNC; 3584; FANCC; Simple; p.Arg185Ter (c.553C>T); ClinVar=VCV000012044; Zygosity=Homozygous (PubMed=7689011).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
ST   Source(s): DSMZ=ACC-398
ST   Amelogenin: X,Y
ST   CSF1PO: 10,11
ST   D13S317: 11
ST   D16S539: 9,13
ST   D18S51: 13,17
ST   D19S433: 13,16
ST   D21S11: 28,31
ST   D2S1338: 22,23
ST   D3S1358: 16,17
ST   D5S818: 12,13
ST   D7S820: 7,12
ST   D8S1179: 15
ST   FGA: 21,23
ST   Penta D: 10
ST   Penta E: 7,19
ST   TH01: 8,9
ST   TPOX: 10,11
ST   vWA: 18
DI   NCIt; C125704; Fanconi anemia, complementation group C
DI   ORDO; Orphanet_84; Fanconi anemia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   Age unspecified
CA   Transformed cell line
DT   Created: 04-04-12; Last updated: 02-05-24; Version: 19
//
RX   PubMed=7689011; DOI=10.1093/hmg/2.6.797;
RA   Gibson R.A., Hajianpour A., Murer-Orlando M., Buchwald M.,
RA   Mathew C.G.;
RT   "A nonsense mutation and exon skipping in the Fanconi anaemia group C
RT   gene.";
RL   Hum. Mol. Genet. 2:797-799(1993).
//
RX   PubMed=20454443; DOI=10.1155/2010/904767;
RA   Uphoff C.C., Denkmann S.A., Steube K.G., Drexler H.G.;
RT   "Detection of EBV, HBV, HCV, HIV-1, HTLV-I and -II, and SMRV in human
RT   and other primate cell lines.";
RL   J. Biomed. Biotechnol. 2010:904767.1-904767.23(2010).
//