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Cellosaurus RCMGi002-A (CVCL_YT37)

Cell line name RCMGi002-A
Synonyms P7L2
Accession CVCL_YT37
Resource Identification Initiative To cite this cell line use: RCMGi002-A (RRID:CVCL_YT37)
Comments From: Research Centre for Medical Genetics; Moscow; Russia.
Population: Caucasian.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
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=33684631).
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 24Y
Category Induced pluripotent stem cell
Publications

PubMed=33684631; DOI=10.1016/j.scr.2021.102251
Kondrateva E.V., Demchenko A., Slesarenko Y., Yasinovsky M., Amelina E., Tabakov V.Y., Voronina E.S., Lavrov A.V., Smirnikhina S.
Derivation of iPSC line (RCMGi002-A) from dermal fibroblasts of a cystic fibrosis female patient with homozygous F508del mutation.
Stem Cell Res. 53:102251-102251(2021)

Cross-references
Cell line databases/resources hPSCreg; RCMGi002-A
Biological sample resources BioSamples; SAMEA6703339
Encyclopedic resources Wikidata; Q98128872
Entry history
Entry creation12-Mar-2020
Last entry update29-Jun-2023
Version number6