ID   CMGANTi004-A
AC   CVCL_C1SX
SY   SEMD2
DR   BioSamples; SAMEA14370027
DR   hPSCreg; CMGANTi004-A
DR   Wikidata; Q114310969
RX   PubMed=36640472;
CC   From: Center of Medical Genetics Antwerp; Antwerp; Belgium.
CC   Population: Caucasian; Italian.
CC   Sequence variation: Mutation; HGNC; 1044; BGN; Simple; p.Gly259Val (c.776G>T); ClinVar=VCV000243091; Zygosity=Hemizygous (PubMed=36640472).
CC   Omics: SNP array analysis.
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C188996; X-linked spondyloepimetaphyseal dysplasia
DI   ORDO; Orphanet_93349; X-linked spondyloepimetaphyseal dysplasia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   50Y
CA   Induced pluripotent stem cell
DT   Created: 22-09-22; Last updated: 29-06-23; Version: 4
//
RX   PubMed=36640472; DOI=10.1016/j.scr.2023.103024;
RA   De Kinderen P., Peeters S., Rabaut L., Mortier G., Ponsaerts P.,
RA   Loeys B.L., Verstraeten A., Meester J.A.N.;
RT   "IPSC reprogramming of two patients with spondyloepimetaphyseal
RT   dysplasia (SEMD, biglycan type).";
RL   Stem Cell Res. 67:103024-103024(2023).
//