Cellosaurus cell line MUNIi005-A (CVCL

Cross-references
Cell line name	MUNIi005-A
Synonyms	fAD1
Accession	CVCL_A4PD
Resource Identification Initiative	To cite this cell line use: MUNIi005-A (RRID:CVCL_A4PD)
Comments	From: Masaryk University; Brno; Czech Republic. Population: Caucasian. Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:9508; PSEN1; Simple; p.Ala246Glu (c.737C>A); ClinVar=VCV000018125; Zygosity=Heterozygous (PubMed=34088008).
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)
Hierarchy	Parent: CVCL_H793 (AG06840)
Sex of cell	Male
Age at sampling	56Y
Category	Induced pluripotent stem cell
Publications	PubMed=34088008; DOI=10.1016/j.scr.2021.102379 Raska J., Hribkova H., Klimova H., Fedorova V., Barak M., Barta T., Pospisilova V., Vochyanova S., Vanova T., Bohaciakova D. Generation of six human iPSC lines from patients with a familial Alzheimer's disease (n = 3) and sex- and age-matched healthy controls (n = 3). Stem Cell Res. 53:102379-102379(2021)
Cell line databases/resources	hPSCreg; MUNIi005-A
Biological sample resources	BioSamples; SAMEA7873285
Encyclopedic resources	Wikidata; Q105510220
Entry history
Entry creation	12-Jan-2021
Last entry update	19-Dec-2024
Version number	7