ID   DF508 6
AC   CVCL_B339
DR   Wikidata; Q54831029
RX   PubMed=20715179;
CC   From: Boston University School of Medicine; Boston; USA.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 1884; CFTR; Simple; p.Phe508del (c.1521_1523delCTT); ClinVar=VCV000007105; Zygosity=Homozygous (PubMed=20715179).
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_L744 ! GM01012
SX   Male
AG   8Y
CA   Induced pluripotent stem cell
DT   Created: 06-06-12; Last updated: 10-09-24; Version: 20
//
RX   PubMed=20715179; DOI=10.1002/stem.495; PMCID=PMC3422663;
RA   Somers A., Jean J.-C., Sommer C.A., Omari A., Ford C.C., Mills J.A.,
RA   Ying L., Sommer A.G., Jean J.M., Smith B.W., Lafyatis R.,
RA   Demierre M.-F., Weiss D.J., French D.L., Gadue P., Murphy G.J.,
RA   Mostoslavsky G., Kotton D.N.;
RT   "Generation of transgene-free lung disease-specific human induced
RT   pluripotent stem cells using a single excisable lentiviral stem cell
RT   cassette.";
RL   Stem Cells 28:1728-1740(2010).
//