Cellosaurus cell line RCMGi012-A (CVCL

Cross-references
Cell line name	RCMGi012-A
Synonyms	P11L3
Accession	CVCL_C9HD
Resource Identification Initiative	To cite this cell line use: RCMGi012-A (RRID:CVCL_C9HD)
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:714; ARSB; Simple; p.Trp322Ter (c.966G>A); ClinVar=VCV000559831; Zygosity=Heterozygous (PubMed=38006675).
Disease	Maroteaux-Lamy syndrome (NCIt: C61264) Mucopolysaccharidosis type 6 (ORDO: Orphanet_583)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	5Y
Category	Induced pluripotent stem cell
Publications	PubMed=38006675; DOI=10.1016/j.scr.2023.103259 Kondrateva E.V., Grigorieva O.V., Panchuk I.O., Bychkov I.O., Zakharova E.Y., Tabakov V.Y., Pozhitnova V.O., Voronina E.S., Shchagina O.A., Lavrov A.V., Smirnikhina S.A., Kutsev S.I. Generation of induced pluripotent stem cell line (RCMGi012-A) from fibroblasts of patient with mucopolysaccharidosis type VI. Stem Cell Res. 73:103259-103259(2023)
Cell line databases/resources	hPSCreg; RCMGi012-A
Biological sample resources	BioSamples; SAMEA113401540
Encyclopedic resources	Wikidata; Q123033343
Entry history
Entry creation	05-Oct-2023
Last entry update	19-Dec-2024
Version number	4