Cellosaurus cell line MCRIi019-A-6 (CVCL

Cross-references
Cell line name	MCRIi019-A-6
Synonyms	1502-COL2A1 p.R719C; 1502.3 COL2A1 p.R719C
Accession	CVCL_D0HR
Resource Identification Initiative	To cite this cell line use: MCRIi019-A-6 (RRID:CVCL_D0HR)
Comments	From: Murdoch Children's Research Institute; Melbourne; Australia. Population: African American. Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:2200; COL2A1; Simple_edited; p.Arg719Cys (c.2155C>T); ClinVar=VCV000017353; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=36682125).
Disease	Osteoarthritis with mild chondrodysplasia (NCIt: C202115) Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis (ORDO: Orphanet_93279)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy	Parent: CVCL_A9XY (MCRIi019-A)
Sex of cell	Female
Age at sampling	12FW
Category	Induced pluripotent stem cell
Publications	PubMed=36682125; DOI=10.1016/j.scr.2023.103020; PMCID=PMC10038005 Kathryn Marie Yammine, Sophia Mirda Abularach, Lisa Sampurno, John F. Bateman, Shireen R. Lamande, Matthew D. Shoulders; Using CRISPR/Cas9 to generate a heterozygous COL2A1 p.R719C iPSC line (MCRIi019-A-6) model of human precocious osteoarthritis. Stem Cell Res. 67:103020-103020(2023)
Cell line databases/resources	hPSCreg; MCRIi019-A-6
Encyclopedic resources	Wikidata; Q123033010
Entry history
Entry creation	05-Oct-2023
Last entry update	19-Dec-2024
Version number	3