ID   GM06100
AC   CVCL_5L53
DR   CLO; CLO_0023621
DR   Coriell; GM06100
DR   Wikidata; Q54842164
CC   Population: African American.
CC   Sequence variation: Mutation; HGNC; HGNC:12363; TSC2; Simple; c.2743-1G>A; ClinVar=VCV000049560; Zygosity=Heterozygous; Note=Splice acceptor mutation (Coriell=GM06100).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C75331; Tuberous sclerosis 2
DI   ORDO; Orphanet_805; Tuberous sclerosis complex
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_5L52 ! GM06099
SX   Female
AG   22Y
CA   Finite cell line
DT   Created: 14-12-15; Last updated: 19-12-24; Version: 14
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