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Cellosaurus BIOTi001-A (CVCL_GP76)

[Text version]
Cell line name BIOTi001-A
Synonyms BIOT-7183-PSEN1
Accession CVCL_GP76
Resource Identification Initiative To cite this cell line use: BIOTi001-A (RRID:CVCL_GP76)
Comments From: BioTalentum, Ltd; Godollo; Hungary.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 9508; PSEN1; Simple; p.Val89Leu (c.265G>T); ClinVar=VCV000021027; Zygosity=Heterozygous (PubMed=27558604).
Disease Alzheimer's disease 3 (NCIt: C123412)
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 55Y
Category Induced pluripotent stem cell
Publications

PubMed=27558604; DOI=10.1016/j.scr.2016.05.019
Nemes C., Varga E., Tancos Z., Bock I., Francz B., Kobolak J., Dinnyes A.
Establishment of PSEN1 mutant induced pluripotent stem cell (iPSC) line from an Alzheimer's disease (AD) female patient.
Stem Cell Res. 17:69-71(2016)

Cross-references
Cell line databases/resources hPSCreg; BIOTi001-A
Biological sample resources BioSamples; SAMEA4999067
Encyclopedic resources Wikidata; Q54796894
Entry history
Entry creation26-Sep-2016
Last entry update29-Jun-2023
Version number13