Cellosaurus logo
expasy logo

Cellosaurus MCRIi019-A-6 (CVCL_D0HR)

[Text version]
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; 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

PubMed=36682125; DOI=10.1016/j.scr.2023.103020
Yammine K.M., Mirda Abularach S., Sampurno L., Bateman J.F., Lamande S.R., Shoulders M.D.
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 creation05-Oct-2023
Last entry update30-Jan-2024
Version number2