ID   GWCMCi005-A
AC   CVCL_C0F0
SY   GWCMCi-TANC2
DR   BioSamples; SAMEA12075250
DR   hPSCreg; GWCMCi005-A
DR   Wikidata; Q112929635
RX   PubMed=35066241;
CC   From: Guangzhou Women and Children's Medical Center; Guangzhou; China.
CC   Population: Chinese.
CC   Sequence variation: Mutation; HGNC; 30212; TANC2; Simple; p.Gln1441Ter (c.4321C>T); Zygosity=Heterozygous; Note=De novo mutation (PubMed=35066241).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C84816; Lennox-Gastaut syndrome
DI   ORDO; Orphanet_2382; Lennox-Gastaut syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   2Y
CA   Induced pluripotent stem cell
DT   Created: 23-06-22; Last updated: 29-06-23; Version: 4
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RX   PubMed=35066241; DOI=10.1016/j.scr.2022.102667;
RA   Tian Y., Shi Z., Liao Y.-T., Cai J.-H., Li W.-J., Li X.-J., Chen W.-X.;
RT   "Generation of an induced pluripotent stem cell line (GWCMCi005-A)
RT   from a patient with Lennox-Gastaut syndrome carrying TANC2 Gln1441Ter
RT   mutation.";
RL   Stem Cell Res. 60:102667-102667(2022).
//