ID   MCRIi001-B
AC   CVCL_ZA74
SY   MCRIi001-A-SOX9tdTom-COL2A1p.R989C; PB001-SOX9tdTom-COL2A1p.R989C
DR   BioSamples; SAMEA7211802
DR   hPSCreg; MCRIi001-B
DR   Wikidata; Q98127124
RX   PubMed=32446218;
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:2200; COL2A1; Simple_edited; p.Arg989Cys (c.2965C>T); ClinVar=VCV000017366; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=32446218).
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; C135088; Spondyloperipheral dysplasia
DI   ORDO; Orphanet_1856; Spondyloperipheral dysplasia-short ulna syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_WU54 ! MCRIi001-A-2
SX   Male
AG   61Y
CA   Induced pluripotent stem cell
DT   Created: 02-07-20; Last updated: 19-12-24; Version: 10
//
RX   PubMed=32446218; DOI=10.1016/j.scr.2020.101843;
RA   Lilianty, Jinia
RA   Nur Patria, Yudha
RA   Stanley, Edouard G.
RA   Elefanty, Andrew George
RA   Bateman, John F.
RA   Lamande, Shireen R.
RT   "Generation of a heterozygous COL2A1 (p.R989C) spondyloepiphyseal
RT   dysplasia congenita mutation iPSC line, MCRIi001-B, using CRISPR/Cas9
RT   gene editing.";
RL   Stem Cell Res. 45:101843-101843(2020).
//