ID   GM25318
AC   CVCL_1N89
SY   GM25318*B
DR   Coriell; GM25318
DR   SKIP; SKIP000739
DR   Wikidata; Q54853872
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:12363; TSC2; Simple; p.Arg1743Gln (c.5528G>A); ClinVar=VCV000049960; Zygosity=Heterozygous (Coriell=GM25318).
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_1N88 ! GM06102
SX   Female
AG   26Y
CA   Induced pluripotent stem cell
DT   Created: 08-07-15; Last updated: 19-12-24; Version: 14
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