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Cellosaurus MCRIi001-A-4 (CVCL_A9Z4)

[Text version]

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.
Transfected with: tdTomato, a bright red fluorescent protein derived from drFP583 (DsRed).
Derived from sampling site: Peripheral blood.
Sequence variations
  • Mutation; 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
Nur Patria Y., Stenta T., Lilianty J., Rowley L., Stanley E.G., Elefanty A.G., Bateman J.F., Lamande S.R.
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 update23-Jun-2022
Version number4