Cellosaurus logo
expasy logo

Cellosaurus MCRIi018-B (CVCL_WN59)

[Text][XML][JSON]
Cell line name MCRIi018-B
Synonyms OI64-control
Accession CVCL_WN59
Resource Identification Initiative To cite this cell line use: MCRIi018-B (RRID:CVCL_WN59)
Comments From: Murdoch Children's Research Institute; Melbourne; Australia.
Population: Caucasian.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:2197; COL1A1; Simple_corrected; p.Trp1312Cys (c.3936G>T); ClinVar=VCV000017335; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=31082677).
Disease Osteogenesis imperfecta (NCIt: C26837)
Osteogenesis imperfecta (ORDO: Orphanet_666)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_WN58 ! MCRIi018-A
Sex of cell Female
Age at sampling <1M
Category Induced pluripotent stem cell
Publications

PubMed=31082677; DOI=10.1016/j.scr.2019.101453
Sara E. Howden, Hani Hosseini Far, Ali Motazedian, Andrew George Elefanty, Edouard G. Stanley, Shireen R. Lamande, John F. Bateman;
The use of simultaneous reprogramming and gene correction to generate an osteogenesis imperfecta patient COL1A1 c.3936G>T iPSC line and an isogenic control iPSC line.
Stem Cell Res. 38:101453-101453(2019)

Cross-references
Cell line databases/resources hPSCreg; MCRIi018-B
Encyclopedic resources Wikidata; Q95987019
Entry history
Entry creation24-May-2019
Last entry update19-Dec-2024
Version number11