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Cellosaurus KMUGMCi006-A (CVCL_D0H7)

[Text version]
Cell line name KMUGMCi006-A
Synonyms TS271 #12 WT
Accession CVCL_D0H7
Resource Identification Initiative To cite this cell line use: KMUGMCi006-A (RRID:CVCL_D0H7)
Comments From: Kanazawa Medical University; Uchinada; Japan.
Population: Japanese.
Characteristics: Established from a patient that is mosaic for a TSC2 p.Glu498Ter mutation, but this cell line does not contain this mutation.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Disease Tuberous sclerosis 2 (NCIt: C75331)
Tuberous sclerosis complex (ORDO: Orphanet_805)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_D0H8 ! KMUGMCi006-B
CVCL_D0H9 ! KMUGMCi006-C
CVCL_D0HA ! KMUGMCi006-D
CVCL_D0HB ! KMUGMCi006-E
CVCL_D0HC ! KMUGMCi006-F
Sex of cell Male
Age at sampling 4Y
Category Induced pluripotent stem cell
Publications

PubMed=37271041; DOI=10.1016/j.scr.2023.103129
Ura H., Togi S., Ozaki M., Hatanaka H., Niida Y.
Establishment of human induced pluripotent stem cell lines, KMUGMCi006, from a patient with tuberous sclerosis complex (TSC) bearing mosaic nonsense mutations in the tuberous sclerosis complex 2 (TSC2) gene.
Stem Cell Res. 70:103129-103129(2023)

Cross-references
Cell line databases/resources hPSCreg; KMUGMCi006-A
Biological sample resources BioSamples; SAMEA112750647
Encyclopedic resources Wikidata; Q123032819
Entry history
Entry creation05-Oct-2023
Last entry update30-Jan-2024
Version number2