Cellosaurus logo
expasy logo

Cellosaurus RCMGi008-A (CVCL_C0C5)

[Text version]
Cell line name RCMGi008-A
Synonyms P9L1
Accession CVCL_C0C5
Resource Identification Initiative To cite this cell line use: RCMGi008-A (RRID:CVCL_C0C5)
Comments From: Research Centre for Medical Genetics; Moscow; Russia.
Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 1884; CFTR; Simple; p.Ser18Argfs*16 (c.54-5940_273+10250del) (CFTRdele2,3); ClinVar=VCV000066105; Zygosity=Heterozygous (PubMed=35843019).
  • Mutation; HGNC; 1884; CFTR; Simple; p.Phe508del (c.1521_1523delCTT); ClinVar=VCV000007105; Zygosity=Heterozygous (PubMed=35843019).
Disease Cystic fibrosis (NCIt: C2975)
Cystic fibrosis (ORDO: Orphanet_586)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 20-24Y
Category Induced pluripotent stem cell

PubMed=35843019; DOI=10.1016/j.scr.2022.102854
Kondrateva E.V., Panchuk I.O., Demchenko A.G., Grigorieva O.V., Zheglo D.G., Voronina E.S., Erofeeva A., Tabakov V.Y., Orlova M.D., Lavrov A.V., Smirnikhina S.A., Kutsev S.I.
Generation of induced pluripotent stem cell line (RCMGi008-A) from human skin fibroblasts of a cystic fibrosis patient with compound heterozygous F508del/CFTRdele2.3 mutations in CFTR gene.
Stem Cell Res. 63:102854-102854(2022)

Cell line databases/resources hPSCreg; RCMGi008-A
Biological sample resources BioSamples; SAMEA14092090
Encyclopedic resources Wikidata; Q114312779
Entry history
Entry creation23-Jun-2022
Last entry update29-Jun-2023
Version number5