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Cellosaurus MCRIi001-A-1 (CVCL_WN06)

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Cell line name MCRIi001-A-1
Synonyms MCRIi001-A-OI26; PB001-OI26
Accession CVCL_WN06
Resource Identification Initiative To cite this cell line use: MCRIi001-A-1 (RRID:CVCL_WN06)
Comments From: Murdoch Children's Research Institute; Melbourne; Australia.
Population: Caucasian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:2197; COL1A1; Simple_edited; p.Val1324Cysfs (c.3969dupT) (c.3969_3970insT); ClinVar=VCV000017308; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=31075690).
Disease Osteogenesis imperfecta (NCIt: C26837)
Osteogenesis imperfecta (ORDO: Orphanet_666)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_UK82 (MCRIi001-A)
Sex of cell Male
Age at sampling 61Y
Category Induced pluripotent stem cell
Publications

PubMed=31075690; DOI=10.1016/j.scr.2019.101449
Hani Hosseini Far, Yudha Nur Patria, Ali Motazedian, Andrew George Elefanty, Edouard G. Stanley, Shireen R. Lamande, John F. Bateman;
Generation of a heterozygous COL1A1 (c.3969_3970insT) osteogenesis imperfecta mutation human iPSC line, MCRIi001-A-1, using CRISPR/Cas9 editing.
Stem Cell Res. 37:101449-101449(2019)

Cross-references
Cell line databases/resources hPSCreg; MCRIi001-A-1
Biological sample resources BioSamples; SAMEA5873307
Encyclopedic resources Wikidata; Q95986992
Entry history
Entry creation24-May-2019
Last entry update19-Dec-2024
Version number10