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Cellosaurus MCRIi001-B (CVCL_ZA74)

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Cell line name MCRIi001-B
Synonyms MCRIi001-A-SOX9tdTom-COL2A1p.R989C; PB001-SOX9tdTom-COL2A1p.R989C
Accession CVCL_ZA74
Resource Identification Initiative To cite this cell line use: MCRIi001-B (RRID:CVCL_ZA74)
Comments From: Murdoch Children's Research Institute; Melbourne; Australia.
Population: Caucasian.
Characteristics: Using CRISPR/Cas9 SOX9 has been endogenously tagged at the C-terminus with TdTomato.
Genetic integration: Method=CRISPR/Cas9; Gene=FPbase; PGG5S; tdTomato (Note=Bright red fluorescent protein derived from drFP583 (DsRed)).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:2200; COL2A1; Simple_edited; p.Arg989Cys (c.2965C>T); ClinVar=VCV000017366; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=32446218).
Disease Spondyloperipheral dysplasia (NCIt: C135088)
Spondyloperipheral dysplasia-short ulna syndrome (ORDO: Orphanet_1856)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_WU54 (MCRIi001-A-2)
Sex of cell Male
Age at sampling 61Y
Category Induced pluripotent stem cell
Publications

PubMed=32446218; DOI=10.1016/j.scr.2020.101843
Jinia Lilianty, Yudha Nur Patria, Edouard G. Stanley, Andrew George Elefanty, John F. Bateman, Shireen R. Lamande;
Generation of a heterozygous COL2A1 (p.R989C) spondyloepiphyseal dysplasia congenita mutation iPSC line, MCRIi001-B, using CRISPR/Cas9 gene editing.
Stem Cell Res. 45:101843-101843(2020)

Cross-references
Cell line databases/resources hPSCreg; MCRIi001-B
Biological sample resources BioSamples; SAMEA7211802
Encyclopedic resources Wikidata; Q98127124
Entry history
Entry creation02-Jul-2020
Last entry update19-Dec-2024
Version number10