ID   MCRIi001-A-4
AC   CVCL_A9Z4
SY   SOX9tdTom TRPV4 p.P799L; MCRIi001-A-2-TRPV4 p.P799L; PB001-SOX9tdTOM-TRPV4pP799L
DR   hPSCreg; MCRIi001-A-4
DR   Wikidata; Q102114509
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; 18083; TRPV4; Simple_edited; p.Pro799Leu (c.2396C>T); ClinVar=VCV000004998; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=32771907).
CC   Transfected with: tdTomato, a bright red fluorescent protein derived from drFP583 (DsRed).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C175209; Metatropic dysplasia
DI   ORDO; Orphanet_2635; Metatropic dysplasia
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: 29-06-23; Version: 6
//
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).
//