ID   CMGANTi006-A
AC   CVCL_D0D5
SY   SEDC1
DR   BioSamples; SAMEA112249023
DR   hPSCreg; CMGANTi006-A
DR   Wikidata; Q123030951
RX   PubMed=36966641;
CC   From: Center of Medical Genetics Antwerp; Antwerp; Belgium.
CC   Population: Caucasian; Polish.
CC   Sequence variation: Mutation; HGNC; 2200; COL2A1; Simple; p.Gly1107Arg (c.3319G>A); ClinVar=VCV001067590; Zygosity=Heterozygous (PubMed=36966641).
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)
SX   Male
AG   3Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 30-01-24; Version: 2
//
RX   PubMed=36966641; DOI=10.1016/j.scr.2023.103080;
RA   De Kinderen P., Rabaut L., Perik M.H.A.M., Peeters S., Ponsaerts P.,
RA   Loeys B.L., Mortier G., Meester J.A.N., Verstraeten A.;
RT   "IPSC reprogramming of two patients with spondyloepiphyseal dysplasia
RT   congenita (SEDC).";
RL   Stem Cell Res. 69:103080-103080(2023).
//