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Cellosaurus MCRIi018-A (CVCL_WN58)

[Text version]
Cell line name MCRIi018-A
Synonyms OI64-mutant
Accession CVCL_WN58
Resource Identification Initiative To cite this cell line use: MCRIi018-A (RRID:CVCL_WN58)
Comments From: Murdoch Children's Research Institute; Melbourne; Australia.
Population: Caucasian.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; 2197; COL1A1; Simple; p.Trp1312Cys (c.3936G>T); ClinVar=VCV000017335; Zygosity=Heterozygous (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_WN59 ! MCRIi018-B
Sex of cell Female
Age at sampling <1M
Category Induced pluripotent stem cell
Publications

PubMed=31082677; DOI=10.1016/j.scr.2019.101453
Howden S., Hosseini Far H., Motazedian A., Elefanty A.G., Stanley E.G., Lamande S.R., Bateman J.F.
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-A
Biological sample resources BioSamples; SAMEA7211803
Encyclopedic resources Wikidata; Q95987018
Entry history
Entry creation24-May-2019
Last entry update30-Jan-2024
Version number10