ID   GM28959
AC   CVCL_D2ZL
SY   GM28959*B
DR   Coriell; GM28959
DR   Wikidata; Q127380943
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:12362; TSC1; Simple; p.Trp750Ter (c.2249G>A); ClinVar=VCV000048922; Zygosity=Heterozygous (Coriell=GM28959).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C75122; Tuberous sclerosis 1
DI   ORDO; Orphanet_805; Tuberous sclerosis complex
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_5L58 ! GM06149
SX   Male
AG   17Y
CA   Induced pluripotent stem cell
DT   Created: 30-01-24; Last updated: 19-12-24; Version: 3
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