ID   GM27453
AC   CVCL_YE56
DR   Coriell; GM27453
DR   Wikidata; Q93933240
CC   Sequence variation: Mutation; HGNC; HGNC:15573; SETBP1; Simple; p.Ser867Arg (c.2601C>A); ClinVar=VCV001878636; Zygosity=Heterozygous; Note=De novo mutation (Coriell=GM27453).
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)
OI   CVCL_YE55 ! GM27452
SX   Female
AG   4Y
CA   Finite cell line
DT   Created: 19-12-19; Last updated: 19-12-24; Version: 10
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