ID   GM13136
AC   CVCL_F126
DR   CLO; CLO_0013654
DR   BioSample; SAMN00802139
DR   Coriell; GM13136
DR   Wikidata; Q54846346
RX   PubMed=7994019;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:3584; FANCC; Simple; c.456+4A>T (IVS4+4A>T); ClinVar=VCV000012045; Zygosity=Homozygous; Note=Splice donor mutation (Coriell=GM13136).
CC   Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C125704; Fanconi anemia, complementation group C
DI   ORDO; Orphanet_84; Fanconi anemia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_F125 ! GM00449
SX   Female
AG   6Y
CA   Transformed cell line
DT   Created: 22-10-12; Last updated: 19-12-24; Version: 21
//
RX   PubMed=7994019; DOI=10.1182/blood.V84.12.3995.bloodjournal84123995;
RA   Liu J.M., Buchwald M., Walsh C.E., Young N.S.;
RT   "Fanconi anemia and novel strategies for therapy.";
RL   Blood 84:3995-4007(1994).
//