Cellosaurus cell line RCMGi009-A (CVCL

Cross-references
Cell line name	RCMGi009-A
Synonyms	P14L1
Accession	CVCL_C9HC
Resource Identification Initiative	To cite this cell line use: RCMGi009-A (RRID:CVCL_C9HC)
Comments	From: Research Centre for Medical Genetics; Moscow; Russia. Population: Caucasian. Derived from site: In situ; Urine; UBERON=UBERON_0001088.
Sequence variations	Mutation; HGNC; HGNC:171; ACVR1; Simple; p.Arg206His (c.617G>A); ClinVar=VCV000018309; Zygosity=Heterozygous (PubMed=37307755).
Disease	Fibrodysplasia ossificans progressiva (NCIt: C3040) Fibrodysplasia ossificans progressiva (ORDO: Orphanet_337)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	14Y
Category	Induced pluripotent stem cell
Publications	PubMed=37307755; DOI=10.1016/j.scr.2023.103133 Kondrateva E.V., Grigorieva O.V., Kurshakova E.V., Panchuk I.O., Pozhitnova V.O., Voronina E.S., Tabakov V.Y., Orlova M.D., Lavrov A.V., Smirnikhina S.A., Kutsev S.I. Generation of induced pluripotent stem cell line (RCMGi009-A) from urine cells of patient with fibrodysplasia ossificans progressiva. Stem Cell Res. 70:103133-103133(2023)
Cell line databases/resources	hPSCreg; RCMGi009-A
Biological sample resources	BioSamples; SAMEA112366029
Encyclopedic resources	Wikidata; Q123033338
Entry history
Entry creation	05-Oct-2023
Last entry update	19-Dec-2024
Version number	3