ID   GM27898
AC   CVCL_ZI03
DR   Coriell; GM27898
DR   Wikidata; Q98126640
CC   Sequence variation: Mutation; HGNC; HGNC:29331; EPG5; Simple; p.Trp865Ter (c.2595G>A); Zygosity=Heterozygous (Coriell=GM27898).
CC   Sequence variation: Mutation; HGNC; HGNC:29331; EPG5; Simple; p.Leu1067Tyrfs*10 (c.3200delT); Zygosity=Heterozygous (Coriell=GM27898).
CC   Sequence variation: Mutation; HGNC; HGNC:13890; ITCH; Simple; c.337+2T>C; Zygosity=Heterozygous; Note=Splice donor mutation (Coriell=GM27898).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C138174; Vici syndrome
DI   ORDO; Orphanet_1493; Vici syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_ZI04 ! GM27900
SX   Female
AG   4M
CA   Finite cell line
DT   Created: 02-07-20; Last updated: 19-12-24; Version: 9
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