ID   RG-428
AC   CVCL_B789
SY   SI-428
DR   Wikidata; Q54950207
WW   https://grants.nih.gov/stem_cells/registry/not_approved.htm
CC   From: Reproductive Genetics Institute; Chicago; USA.
CC   Registration: NIH Human Embryonic Stem Cell Registry; not approved.
CC   Sequence variation: Mutation; HGNC; HGNC:12362; TSC1; Simple; c.663+1G>A (IVS7+1G>A); ClinVar=VCV000049076; Zygosity=Heterozygous; Note=Splice donor mutation (ISCR=662).
CC   Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358.
CC   Cell type: Embryonic stem cell; CL=CL_0002322.
DI   NCIt; C75122; Tuberous sclerosis 1
DI   ORDO; Orphanet_805; Tuberous sclerosis complex
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Sex unspecified
AG   Blastocyst stage
CA   Embryonic stem cell
DT   Created: 06-06-12; Last updated: 19-12-24; Version: 18
//