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Cellosaurus NERCi001-A (CVCL_A0YM)

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Cell line name NERCi001-A
Accession CVCL_A0YM
Resource Identification Initiative To cite this cell line use: NERCi001-A (RRID:CVCL_A0YM)
Comments From: National Engineering and Research Center of Human Stem Cell; Changsha; China.
Derived from site: In situ; Placenta; UBERON=UBERON_0001987.
Cell type: Mesenchymal stem cell; CL=CL_0000134.
Sequence variations
  • Mutation; HGNC; HGNC:11730; TERT; Simple; p.Arg599Gln (c.1796G>A); ClinVar=VCV000635412; Zygosity=Heterozygous (hPSCreg=NERCi001-A).
  • Mutation; HGNC; HGNC:11730; TERT; Simple; p.Ser947Pro (c.2839T>C); ClinVar=VCV000635413; Zygosity=Heterozygous (hPSCreg=NERCi001-A).
  • Mutation; HGNC; HGNC:11730; TERT; Simple; p.Glu1116Gln (c.3346G>C); ClinVar=VCV000635414; Zygosity=Heterozygous (hPSCreg=NERCi001-A).
Disease Dyskeratosis congenita (NCIt: C111802)
Dyskeratosis congenita (ORDO: Orphanet_1775)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Category Induced pluripotent stem cell
Cross-references
Cell line databases/resources hPSCreg; NERCi001-A
Biological sample resources BioSamples; SAMEA7851605
Encyclopedic resources Wikidata; Q108821026
Entry history
Entry creation23-Sep-2021
Last entry update19-Dec-2024
Version number7