ID   RCMGi004-A
AC   CVCL_A9H9
SY   P6L2
DR   BioSamples; SAMEA7211806
DR   hPSCreg; RCMGi004-A
DR   Wikidata; Q102114801
RX   PubMed=33607467;
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=Heterozygous (PubMed=33607467).
CC   Sequence variation: Mutation; HGNC; 1884; CFTR; Simple; p.Trp1282Ter (c.3846G>A); ClinVar=VCV000007129; Zygosity=Heterozygous (PubMed=33607467).
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_A1WP ! RCMGi004-B
SX   Male
AG   28Y
CA   Induced pluripotent stem cell
DT   Created: 29-10-20; Last updated: 29-06-23; Version: 6
//
RX   PubMed=33607467; DOI=10.1016/j.scr.2021.102232;
RA   Kondrateva E.V., Demchenko A., Slesarenko Y., Pozhitnova V.O.,
RA   Yasinovsky M., Amelina E., Tabakov V.Y., Voronina E.S., Lavrov A.V.,
RA   Smirnikhina S.;
RT   "Generation of two induced pluripotent stem cell lines (RCMGi004-A and
RT   -B) from human skin fibroblasts of a cystic fibrosis patient with
RT   compound heterozygous F508del/W1282X mutations in CFTR gene.";
RL   Stem Cell Res. 52:102232-102232(2021).
//