ID   RCMGi001-A
AC   CVCL_YT36
SY   P1L5
DR   BioSamples; SAMEA6599779
DR   hPSCreg; RCMGi001-A
DR   Wikidata; Q98128871
RX   PubMed=32777768;
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=32777768).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): PubMed=32777768
ST   Amelogenin: X,Y
ST   CSF1PO: 12,13
ST   D13S317: 9
ST   D16S539: 12
ST   D18S51: 15,20
ST   D19S433: 13
ST   D21S11: 29,30
ST   D2S1338: 20
ST   D3S1358: 16
ST   D5S818: 11,12
ST   D7S820: 8,11
ST   D8S1179: 8,14
ST   FGA: 24.2,26
ST   TH01: 6,7
ST   TPOX: 8,11
ST   vWA: 15,16
DI   NCIt; C2975; Cystic fibrosis
DI   ORDO; Orphanet_586; Cystic fibrosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   27Y
CA   Induced pluripotent stem cell
DT   Created: 12-03-20; Last updated: 29-06-23; Version: 6
//
RX   PubMed=32777768; DOI=10.1016/j.scr.2020.101933;
RA   Kondrateva E.V., Adilgereeva E., Amelina E., Tabakov V.Y., Demchenko A.,
RA   Ustinov K., Yasinovsky M., Voronina E.S., Lavrov A.V., Smirnikhina S.;
RT   "Generation of induced pluripotent stem cell line (RCMGi001-A) from
RT   human skin fibroblasts of a cystic fibrosis patient with p.F508del
RT   mutation.";
RL   Stem Cell Res. 48:101933-101933(2020).
//