ID   RCMGi008-A
AC   CVCL_C0C5
SY   P9L1
DR   BioSamples; SAMEA14092090
DR   hPSCreg; RCMGi008-A
DR   Wikidata; Q114312779
RX   PubMed=35843019;
CC   From: Research Centre for Medical Genetics; Moscow; Russia.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 1884; CFTR; Simple; p.Ser18Argfs*16 (c.54-5940_273+10250del) (CFTRdele2,3); ClinVar=VCV000066105; Zygosity=Heterozygous (PubMed=35843019).
CC   Sequence variation: Mutation; HGNC; 1884; CFTR; Simple; p.Phe508del (c.1521_1523delCTT); ClinVar=VCV000007105; Zygosity=Heterozygous (PubMed=35843019).
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)
SX   Female
AG   20-24Y
CA   Induced pluripotent stem cell
DT   Created: 23-06-22; Last updated: 29-06-23; Version: 5
//
RX   PubMed=35843019; DOI=10.1016/j.scr.2022.102854;
RA   Kondrateva E.V., Panchuk I.O., Demchenko A.G., Grigorieva O.V.,
RA   Zheglo D.G., Voronina E.S., Erofeeva A., Tabakov V.Y., Orlova M.D.,
RA   Lavrov A.V., Smirnikhina S.A., Kutsev S.I.;
RT   "Generation of induced pluripotent stem cell line (RCMGi008-A) from
RT   human skin fibroblasts of a cystic fibrosis patient with compound
RT   heterozygous F508del/CFTRdele2.3 mutations in CFTR gene.";
RL   Stem Cell Res. 63:102854-102854(2022).
//