Cellosaurus cell line RCMGi014-A (CVCL

Cross-references
Cell line name	RCMGi014-A
Synonyms	P20L7
Accession	CVCL_E4EM
Resource Identification Initiative	To cite this cell line use: RCMGi014-A (RRID:CVCL_E4EM)
Comments	From: Research Centre for Medical Genetics; Moscow; Russia. 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 (DOI=10.1134/S1062360424700048).
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	11Y
Category	Induced pluripotent stem cell
Publications	DOI=10.1134/S1062360424700048 Kondrateva E.V., Grigorieva O.V., Kurshakova E.V., Panchuk I.O., Pozhitnova V.O., Voronina E.S., Tabakov V.Y., Nikishina I.P., Arsenyeva S.V., Matkava V.G., Lavrov A.V., Smirnikhina S.A., Kutsev S.I. Creation of induced pluripotent stem cells RCMGi014-A using reprogramming of urine cells of a patient with fibrodysplasia ossificans progressiva associated with heterozygous mutation in the ACVR1 gene. Russ. J. Dev. Biol. 55:34-38(2024)
Cell line databases/resources	hPSCreg; RCMGi014-A
Biological sample resources	BioSamples; SAMEA114786333
Entry history
Entry creation	19-Dec-2024
Last entry update	19-Dec-2024
Version number	1