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Cellosaurus RCMGi004-A (CVCL_A9H9)

[Text version]
Cell line name RCMGi004-A
Synonyms P6L2
Accession CVCL_A9H9
Resource Identification Initiative To cite this cell line use: RCMGi004-A (RRID:CVCL_A9H9)
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=Heterozygous (PubMed=33607467).
  • Mutation; HGNC; 1884; CFTR; Simple; p.Trp1282Ter (c.3846G>A); ClinVar=VCV000007129; Zygosity=Heterozygous (PubMed=33607467).
Disease Cystic fibrosis (NCIt: C2975)
Cystic fibrosis (ORDO: Orphanet_586)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_A1WP ! RCMGi004-B
Sex of cell Male
Age at sampling 28Y
Category Induced pluripotent stem cell
Publications

PubMed=33607467; DOI=10.1016/j.scr.2021.102232
Kondrateva E.V., Demchenko A., Slesarenko Y., Pozhitnova V.O., Yasinovsky M., Amelina E., Tabakov V.Y., Voronina E.S., Lavrov A.V., Smirnikhina S.
Generation of two induced pluripotent stem cell lines (RCMGi004-A and -B) from human skin fibroblasts of a cystic fibrosis patient with compound heterozygous F508del/W1282X mutations in CFTR gene.
Stem Cell Res. 52:102232-102232(2021)

Cross-references
Cell line databases/resources hPSCreg; RCMGi004-A
Biological sample resources BioSamples; SAMEA7211806
Encyclopedic resources Wikidata; Q102114801
Entry history
Entry creation29-Oct-2020
Last entry update29-Jun-2023
Version number6