ID   OSRi009-A
AC   CVCL_A0XY
SY   SGS_D868N
DR   BioSamples; SAMEA9679952
DR   hPSCreg; OSRi009-A
DR   Wikidata; Q108821078
CC   From: Ospedale San Raffaele; Milan; Italy.
CC   Sequence variation: Mutation; HGNC; 15573; SETBP1; Simple; p.Asp868Asn (c.2602G>A); ClinVar=VCV000001032; Zygosity=Heterozygous (hPSCreg=OSRi009-A).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C129308; Schinzel-Giedion midface-retraction syndrome
DI   ORDO; Orphanet_798; Schinzel-Giedion syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
CA   Induced pluripotent stem cell
DT   Created: 23-09-21; Last updated: 29-06-23; Version: 6
//