ID   KMUGMCi006-E
AC   CVCL_D0HB
SY   TS271 #4 MT
DR   BioSamples; SAMEA112774602
DR   hPSCreg; KMUGMCi006-E
DR   Wikidata; Q123032827
RX   PubMed=37271041;
CC   From: Kanazawa Medical University; Uchinada; Japan.
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:12363; TSC2; Simple; p.Glu498Ter (c.1492G>T); ClinVar=VCV000049637; Zygosity=Mosaic (PubMed=37271041).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C75331; Tuberous sclerosis 2
DI   ORDO; Orphanet_805; Tuberous sclerosis complex
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_D0H7 ! KMUGMCi006-A
OI   CVCL_D0H8 ! KMUGMCi006-B
OI   CVCL_D0H9 ! KMUGMCi006-C
OI   CVCL_D0HA ! KMUGMCi006-D
OI   CVCL_D0HC ! KMUGMCi006-F
SX   Male
AG   4Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 19-12-24; Version: 3
//
RX   PubMed=37271041; DOI=10.1016/j.scr.2023.103129;
RA   Ura H., Togi S., Ozaki M., Hatanaka H., Niida Y.;
RT   "Establishment of human induced pluripotent stem cell lines,
RT   KMUGMCi006, from a patient with tuberous sclerosis complex (TSC)
RT   bearing mosaic nonsense mutations in the tuberous sclerosis complex 2
RT   (TSC2) gene.";
RL   Stem Cell Res. 70:103129-103129(2023).
//