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Cellosaurus MCRIi001-B (CVCL_ZA74)

[Text version]
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.
Transfected with: tdTomato, a bright red fluorescent protein derived from drFP583 (DsRed).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; 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
Lilianty J., Nur Patria Y., Stanley E.G., Elefanty A.G., Bateman J.F., Lamande S.R.
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 update29-Jun-2023
Version number8