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Cellosaurus RCMGi005-B (CVCL_C0C6)

[Text version]
Cell line name RCMGi005-B
Synonyms P5L5
Accession CVCL_C0C6
Resource Identification Initiative To cite this cell line use: RCMGi005-B (RRID:CVCL_C0C6)
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.Phe508del (c.1521_1523delCTT); ClinVar=VCV000007105; Zygosity=Homozygous (PubMed=36067639).
Disease Cystic fibrosis (NCIt: C2975)
Cystic fibrosis (ORDO: Orphanet_586)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_A5FT ! RCMGi005-A
Sex of cell Male
Age at sampling 29Y
Category Induced pluripotent stem cell
Publications

PubMed=36067639; DOI=10.1016/j.scr.2022.102896
Panchuk I.O., Kondrateva E.V., Demchenko A.G., Grigorieva O.V., Erofeeva A., Amelina E., Tabakov V.Y., Orlova M.D., Voronina E.S., Pozhitnova V.O., Lavrov A.V., Smirnikhina S.A., Kutsev S.I.
Generation of two induced pluripotent stem cell lines (RCMGi005-A/B) from human skin fibroblasts of a cystic fibrosis patient with homozygous F508del mutation in CFTR gene.
Stem Cell Res. 64:102896-102896(2022)

Cross-references
Cell line databases/resources hPSCreg; RCMGi005-B
Biological sample resources BioSamples; SAMEA14263260
Encyclopedic resources Wikidata; Q114312778
Entry history
Entry creation23-Jun-2022
Last entry update29-Jun-2023
Version number5