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Cellosaurus MCRIi001-A-4 (CVCL_A9Z4)

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Cell line name MCRIi001-A-4
Synonyms SOX9tdTom TRPV4 p.P799L; MCRIi001-A-2-TRPV4 p.P799L; PB001-SOX9tdTOM-TRPV4pP799L
Accession CVCL_A9Z4
Resource Identification Initiative To cite this cell line use: MCRIi001-A-4 (RRID:CVCL_A9Z4)
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:18083; TRPV4; Simple_edited; p.Pro799Leu (c.2396C>T); ClinVar=VCV000004998; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=32771907).
Disease Metatropic dysplasia (NCIt: C175209)
Metatropic dysplasia (ORDO: Orphanet_2635)
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=32771907; DOI=10.1016/j.scr.2020.101942
Yudha Nur Patria, Tayla Stenta, Jinia Lilianty, Lynn Rowley, Edouard G. Stanley, Andrew George Elefanty, John F. Bateman, Shireen R. Lamande;
CRISPR/Cas9 gene editing of a SOX9 reporter human iPSC line to produce two TRPV4 patient heterozygous missense mutant iPSC lines, MCRIi001-A-3 (TRPV4 p.F273L) and MCRIi001-A-4 (TRPV4 p.P799L).
Stem Cell Res. 48:101942-101942(2020)

Cross-references
Cell line databases/resources hPSCreg; MCRIi001-A-4
Encyclopedic resources Wikidata; Q102114509
Entry history
Entry creation29-Oct-2020
Last entry update19-Dec-2024
Version number8