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Cellosaurus MCRIi019-A-7 (CVCL_A1QP)

[Text version]
Cell line name MCRIi019-A-7
Synonyms 1502-COL2A1 p.G1113C; 1502.3 COL2A1 p.G1113C
Accession CVCL_A1QP
Resource Identification Initiative To cite this cell line use: MCRIi019-A-7 (RRID:CVCL_A1QP)
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.Gly1113Cys (c.3337G>T); Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=34543885).
Disease Type II achondrogenesis (NCIt: C3816)
Achondrogenesis type 2 (ORDO: Orphanet_93296)
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=34543885; DOI=10.1016/j.scr.2021.102515
Lilianty J., Bateman J.F., Lamande S.R.
Generation of a heterozygous COL2A1 (p.G1113C) hypochondrogenesis mutation iPSC line, MCRIi019-A-7, using CRISPR/Cas9 gene editing.
Stem Cell Res. 56:102515-102515(2021)

Cross-references
Cell line databases/resources hPSCreg; MCRIi019-A-7
Encyclopedic resources Wikidata; Q102114512
Entry history
Entry creation29-Oct-2020
Last entry update05-Oct-2023
Version number8