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Cellosaurus TSHSUi001-A (CVCL_C9LQ)

[Text version]
Cell line name TSHSUi001-A
Accession CVCL_C9LQ
Resource Identification Initiative To cite this cell line use: TSHSUi001-A (RRID:CVCL_C9LQ)
Comments From: The Second Hospital of Shandong University; Jinan; China.
Population: Chinese; Han.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 11389; STK11; Simple; c.290+1G>A; ClinVar=VCV000428787; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=37392704).
Disease Peutz-Jeghers syndrome (NCIt: C3324)
Peutz-Jeghers syndrome (ORDO: Orphanet_2869)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 13Y
Category Induced pluripotent stem cell
Publications

PubMed=37392704; DOI=10.1016/j.scr.2023.103152
Wang T., Zhu K.-X., Yu W.-H., Peng L., Wang H.-J., Wu Q.
Generation of an iPSC line (TSHSUi001-A) from a patient with Peutz-Jeghers syndrome due to STK11 mutation.
Stem Cell Res. 71:103152-103152(2023)

Cross-references
Cell line databases/resources hPSCreg; TSHSUi001-A
Encyclopedic resources Wikidata; Q123033655
Entry history
Entry creation05-Oct-2023
Last entry update30-Jan-2024
Version number2