ID   RCMGi005-B
AC   CVCL_C0C6
SY   P5L5
DR   BioSamples; SAMEA14263260
DR   hPSCreg; RCMGi005-B
DR   Wikidata; Q114312778
RX   PubMed=36067639;
CC   From: Research Centre for Medical Genetics; Moscow; Russia.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 1884; CFTR; Simple; p.Phe508del (c.1521_1523delCTT); ClinVar=VCV000007105; Zygosity=Homozygous (PubMed=36067639).
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)
OI   CVCL_A5FT ! RCMGi005-A
SX   Male
AG   29Y
CA   Induced pluripotent stem cell
DT   Created: 23-06-22; Last updated: 29-06-23; Version: 5
//
RX   PubMed=36067639; DOI=10.1016/j.scr.2022.102896;
RA   Panchuk I.O., Kondrateva E.V., Demchenko A.G., Grigorieva O.V.,
RA   Erofeeva A., Amelina E., Tabakov V.Y., Orlova M.D., Voronina E.S.,
RA   Pozhitnova V.O., Lavrov A.V., Smirnikhina S.A., Kutsev S.I.;
RT   "Generation of two induced pluripotent stem cell lines (RCMGi005-A/B)
RT   from human skin fibroblasts of a cystic fibrosis patient with
RT   homozygous F508del mutation in CFTR gene.";
RL   Stem Cell Res. 64:102896-102896(2022).
//