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Cellosaurus TUSMi008-A (CVCL_UM28)

[Text version]
Cell line name TUSMi008-A
Synonyms 15F0021
Accession CVCL_UM28
Resource Identification Initiative To cite this cell line use: TUSMi008-A (RRID:CVCL_UM28)
Comments From: Tongji University School of Medicine; Wuhan; China.
Population: Chinese; Han.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 8624; PAXIP1; Simple; p.Gln413_His414insGlnGln (c.1241_1242insGCAGCA); Zygosity=Heterozygous (PubMed=30831521).
Disease Alzheimer's disease (NCIt: C2866)
Early-onset autosomal dominant Alzheimer disease (ORDO: Orphanet_1020)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 76Y
Category Induced pluripotent stem cell
Publications

PubMed=30831521; DOI=10.1016/j.scr.2019.101391
Wang Y., Zhang J., Hu J.-H., Li G., Lei Y., Zhao J.
Establishment of TUSMi008-A, an induced pluripotent stem cell (iPSC) line from a 76-year old Alzheimer's disease (AD) patient with PAXIP1 gene mutation.
Stem Cell Res. 36:101391-101391(2019)

Cross-references
Cell line databases/resources hPSCreg; TUSMi008-A
Biological sample resources BioSamples; SAMEA5912468
Encyclopedic resources Wikidata; Q98133690
Entry history
Entry creation25-Feb-2019
Last entry update29-Jun-2023
Version number7