Cellosaurus cell line BIOTi001-A (CVCL

Cross-references
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; 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 Csilla Nemes, Eszter Varga, Zsuzsanna Tancos, Istvan Bock, Barbara Francz, Julianna Kobolak, Andras Dinnyes; 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)
Cell line databases/resources	hPSCreg; BIOTi001-A
Biological sample resources	BioSamples; SAMEA4999067
Encyclopedic resources	Wikidata; Q54796894
Entry history
Entry creation	26-Sep-2016
Last entry update	19-Dec-2024
Version number	14