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Cellosaurus MCRIi019-A-2 (CVCL_A9XZ)

[Text version]
Cell line name MCRIi019-A-2
Synonyms 1502-COL2A1 p.G1170S; 1502.3 COL2A1 p.G1170S
Accession CVCL_A9XZ
Resource Identification Initiative To cite this cell line use: MCRIi019-A-2 (RRID:CVCL_A9XZ)
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.Gly1170Ser (c.3508_3510GGT>TCA); Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=33002832).
Disease Perthes disease (NCIt: C34766)
Legg-Calve-Perthes disease (ORDO: Orphanet_2380)
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=33002832; DOI=10.1016/j.scr.2020.101962
Kung L.H.-W., Sampurno L., Yammine K.M., Graham A., McDonald P., Bateman J.F., Shoulders M.D., Lamande S.R.
CRISPR/Cas9 editing to generate a heterozygous COL2A1 p.G1170S human chondrodysplasia iPSC line, MCRIi019-A-2, in a control iPSC line, MCRIi019-A.
Stem Cell Res. 48:101962-101962(2020)

Cross-references
Cell line databases/resources hPSCreg; MCRIi019-A-2
Encyclopedic resources Wikidata; Q102114511
Entry history
Entry creation29-Oct-2020
Last entry update05-Oct-2023
Version number7