ID   GM13034
AC   CVCL_Y605
DR   CLO; CLO_0014038
DR   BioSample; SAMN00802034
DR   Coriell; GM13034
DR   Wikidata; Q54846275
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:4451; GPC3; Simple; c.1292+1G>T (IVS5+1G>T); ClinVar=VCV000011688; Zygosity=Unspecified; Note=Splice donor mutation (Coriell=GM13034).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C118787; Simpson Golabi Behmel syndrome type 1
DI   ORDO; Orphanet_373; Simpson-Golabi-Behmel syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   6D
CA   Finite cell line
DT   Created: 10-04-15; Last updated: 19-12-24; Version: 14
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