ID   iPS.III.7.3
AC   CVCL_W257
DR   Wikidata; Q54898175
RX   PubMed=24319668;
CC   Sequence variation: Mutation; HGNC; HGNC:1100; BRCA1; Simple; p.Gln1756Profs*74 (c.5266dupC) (5382insC); ClinVar=VCV000017677; Zygosity=Heterozygous (PubMed=24319668).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C36100; BRCA1-associated hereditary breast and ovarian cancer syndrome
DI   ORDO; Orphanet_145; Hereditary breast and ovarian cancer syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_W255 ! iPS.III.7.1
OI   CVCL_W256 ! iPS.III.7.2
OI   CVCL_W258 ! iPS.III.7.4
SX   Female
AG   48Y
CA   Induced pluripotent stem cell
DT   Created: 16-04-14; Last updated: 19-12-24; Version: 12
//
RX   PubMed=24319668; DOI=10.1016/j.stemcr.2013.08.004; PMCID=PMC3849250;
RA   Soyombo A.A., Wu Y.-P., Kolski L., Rios J.J., Rakheja D., Chen A.,
RA   Kehler J., Hampel H., Coughran A., Ross T.S.;
RT   "Analysis of induced pluripotent stem cells from a BRCA1 mutant
RT   family.";
RL   Stem Cell Reports 1:336-349(2013).
//