ID   RCMGi013-A
AC   CVCL_D0KV
SY   P2L2
DR   BioSamples; SAMEA114427315
DR   hPSCreg; RCMGi013-A
DR   Wikidata; Q123033344
CC   From: Research Centre for Medical Genetics; Moscow; Russia.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:1884; CFTR; Simple; p.Phe508del (c.1521_1523delCTT); ClinVar=VCV000007105; Zygosity=Homozygous (hPSCreg=RCMGi013-A).
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   Male
AG   20-24Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 19-12-24; Version: 3
//