ID   MCRIi001-A-3
AC   CVCL_A9Z3
SY   SOX9tdTom-TRPV4 p.F273L; MCRIi001-A-2-TRPV4 p.F273L; PB001-SOX9tdTom-TRPV4p.F273L
DR   hPSCreg; MCRIi001-A-3
DR   Wikidata; Q103825216
RX   PubMed=32771907;
CC   From: Murdoch Children's Research Institute; Melbourne; Australia.
CC   Population: Caucasian.
CC   Characteristics: Using CRISPR/Cas9 SOX9 has been endogenously tagged at the C-terminus with TdTomato.
CC   Sequence variation: Mutation; HGNC; HGNC:18083; TRPV4; Simple_edited; p.Phe273Leu (c.819C>G); ClinVar=VCV000035511; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=32771907).
CC   Genetic integration: Method=CRISPR/Cas9; Gene=FPbase; PGG5S; tdTomato (Note=Bright red fluorescent protein derived from drFP583 (DsRed)).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C175208; Familial digital arthropathy-brachydactyly
DI   ORDO; Orphanet_85169; Familial digital arthropathy-brachydactyly
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_WU54 ! MCRIi001-A-2
SX   Male
AG   61Y
CA   Induced pluripotent stem cell
DT   Created: 29-10-20; Last updated: 19-12-24; Version: 8
//
RX   PubMed=32771907; DOI=10.1016/j.scr.2020.101942;
RA   Nur Patria Y., Stenta T., Lilianty J., Rowley L., Stanley E.G.,
RA   Elefanty A.G., Bateman J.F., Lamande S.R.;
RT   "CRISPR/Cas9 gene editing of a SOX9 reporter human iPSC line to
RT   produce two TRPV4 patient heterozygous missense mutant iPSC lines,
RT   MCRIi001-A-3 (TRPV4 p.F273L) and MCRIi001-A-4 (TRPV4 p.P799L).";
RL   Stem Cell Res. 48:101942-101942(2020).
//