ID   17-14-C1
AC   CVCL_D3C2
DR   Wikidata; Q127378648
RX   PubMed=25772471;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 1884; CFTR; Simple_corrected; p.Ile507del (c.1516_1518ATC[1]) (c.1519_1521delATC); ClinVar=VCV000007106; Zygosity=Heterozygous; Note=By ZFN (PubMed=25772471).
CC   Sequence variation: Mutation; HGNC; 1884; CFTR; Simple; p.Phe508del (c.1521_1523delCTT); ClinVar=VCV000007105; Zygosity=Heterozygous (PubMed=25772471).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C2975; Cystic fibrosis
DI   ORDO; Orphanet_586; Cystic fibrosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_WN85 ! CF iPSC clone 17
SX   Male
AG   17Y
CA   Induced pluripotent stem cell
DT   Created: 30-01-24; Last updated: 10-09-24; Version: 2
//
RX   PubMed=25772471; DOI=10.1016/j.stemcr.2015.02.005; PMCID=PMC4400651;
RA   Crane A.M., Kramer P., Bui-Griffith J.H., Chung W.J., Li X.S.,
RA   Gonzalez-Garay M.L., Hawkins F., Liao W., Mora D., Choi S., Wang J.-B.,
RA   Sun H.C., Paschon D.E., Guschin D.Y., Gregory P.D., Kotton D.N.,
RA   Holmes M.C., Sorscher E.J., Davis B.R.;
RT   "Targeted correction and restored function of the CFTR gene in cystic
RT   fibrosis induced pluripotent stem cells.";
RL   Stem Cell Reports 4:569-577(2015).
//