Cellosaurus cell line RCMGi004-A (CVCL

Cellosaurus RCMGi004-A (CVCL_A9H9)

Cross-references
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; HGNC:1884; CFTR; Simple; p.Phe508del (c.1521_1523delCTT); ClinVar=VCV000007105; Zygosity=Heterozygous (PubMed=33607467). Mutation; HGNC; 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.G., Slesarenko Y.S., Pozhitnova V.O., Yasinovsky M., Amelina E., Tabakov V.Y., Voronina E.S., Lavrov A.V., Smirnikhina S.A. 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)
Cell line databases/resources	hPSCreg; RCMGi004-A
Biological sample resources	BioSamples; SAMEA7211806
Encyclopedic resources	Wikidata; Q102114801
Entry history
Entry creation	29-Oct-2020
Last entry update	19-Dec-2024
Version number	7