ID   NERCi001-A
AC   CVCL_A0YM
DR   BioSamples; SAMEA7851605
DR   hPSCreg; NERCi001-A
DR   Wikidata; Q108821026
CC   From: National Engineering and Research Center of Human Stem Cell; Changsha; China.
CC   Sequence variation: Mutation; HGNC; 11730; TERT; Simple; p.Arg599Gln (c.1796G>A); ClinVar=VCV000635412; Zygosity=Heterozygous (hPSCreg=NERCi001-A).
CC   Sequence variation: Mutation; HGNC; 11730; TERT; Simple; p.Ser947Pro (c.2839T>C); ClinVar=VCV000635413; Zygosity=Heterozygous (hPSCreg=NERCi001-A).
CC   Sequence variation: Mutation; HGNC; 11730; TERT; Simple; p.Glu1116Gln (c.3346G>C); ClinVar=VCV000635414; Zygosity=Heterozygous (hPSCreg=NERCi001-A).
CC   Derived from site: In situ; Placenta; UBERON=UBERON_0001987.
CC   Cell type: Mesenchymal stem cell; CL=CL_0000134.
DI   NCIt; C111802; Dyskeratosis congenita
DI   ORDO; Orphanet_1775; Dyskeratosis congenita
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
CA   Induced pluripotent stem cell
DT   Created: 23-09-21; Last updated: 05-10-23; Version: 6
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