ID   GM28955
AC   CVCL_D2ZK
SY   GM28955*B
DR   Coriell; GM28955
DR   Wikidata; Q127380942
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:12363; TSC2; Simple; p.His522Thrfs*13 (c.1564delC); ClinVar=VCV000049640; Zygosity=Unspecified (Coriell=GM28955).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C75331; Tuberous sclerosis 2
DI   ORDO; Orphanet_805; Tuberous sclerosis complex
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_5L49 ! GM03958
SX   Female
AG   16Y
CA   Induced pluripotent stem cell
DT   Created: 30-01-24; Last updated: 19-12-24; Version: 3
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