Cellosaurus cell line (CVCL

Entry history
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	Audrey Laurie, Janet M. Downie, Malcolm Bateman, Aidan Courtney; Derivation of the clinical grade human embryonic stem cell line RCe017-A (RC-13). Stem Cell Res. 16:756-760(2016)
Entry creation	26-Sep-2016
Last entry update	19-Dec-2024
Version number	14