ID   CMGANTi007-A
AC   CVCL_D0D6
SY   SEDC2
DR   BioSamples; SAMEA112320817
DR   hPSCreg; CMGANTi007-A
DR   Wikidata; Q123030952
RX   PubMed=36966641;
CC   From: Center of Medical Genetics Antwerp; Antwerp; Belgium.
CC   Population: Caucasian; Belgian.
CC   Sequence variation: Mutation; HGNC; HGNC:2200; COL2A1; Simple; p.Gly408Asp (c.1223G>A); 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   13Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 19-12-24; Version: 3
//
RX   PubMed=36966641; DOI=10.1016/j.scr.2023.103080; PMCID=PMC10240565;
RA   De Kinderen, Pauline
RA   Rabaut, Laura
RA   Perik, Melanie H.A.M.
RA   Peeters, Silke
RA   Ponsaerts, Peter
RA   Loeys, Bart Leo
RA   Mortier, Geert
RA   Meester, Josephina A.N.
RA   Verstraeten, Aline
RT   "IPSC reprogramming of two patients with spondyloepiphyseal dysplasia
RT   congenita (SEDC).";
RL   Stem Cell Res. 69:103080-103080(2023).
//