ID   OSRi010-A
AC   CVCL_A0YA
SY   SGS_I871T
DR   BioSamples; SAMEA9686048
DR   hPSCreg; OSRi010-A
DR   Wikidata; Q108821081
CC   From: Ospedale San Raffaele; Milan; Italy.
CC   Sequence variation: Mutation; HGNC; 15573; SETBP1; Simple; p.Ile871Thr (c.2612T>C); ClinVar=VCV000001031; Zygosity=Heterozygous (hPSCreg=OSRi010-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
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