ID   RCMGi002-A
AC   CVCL_YT37
SY   P7L2
DR   BioSamples; SAMEA6703339
DR   hPSCreg; RCMGi002-A
DR   Wikidata; Q98128872
RX   PubMed=33684631;
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=33684631).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
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   24Y
CA   Induced pluripotent stem cell
DT   Created: 12-03-20; Last updated: 29-06-23; Version: 6
//
RX   PubMed=33684631; DOI=10.1016/j.scr.2021.102251;
RA   Kondrateva E.V., Demchenko A., Slesarenko Y., Yasinovsky M., Amelina E.,
RA   Tabakov V.Y., Voronina E.S., Lavrov A.V., Smirnikhina S.;
RT   "Derivation of iPSC line (RCMGi002-A) from dermal fibroblasts of a
RT   cystic fibrosis female patient with homozygous F508del mutation.";
RL   Stem Cell Res. 53:102251-102251(2021).
//