ID   OSRi009-A-1
AC   CVCL_A0XZ
SY   SGS_D868D
DR   BioSamples; SAMEA9679973
DR   hPSCreg; OSRi009-A-1
DR   Wikidata; Q108821079
CC   From: Ospedale San Raffaele; Milan; Italy.
CC   Sequence variation: Mutation; HGNC; HGNC:15573; SETBP1; Simple_corrected; p.Asp868Asn (c.2602G>A); ClinVar=VCV000001032; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (hPSCreg=OSRi009-A-1).
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)
HI   CVCL_A0XY ! OSRi009-A
SX   Male
CA   Induced pluripotent stem cell
DT   Created: 23-09-21; Last updated: 19-12-24; Version: 7
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