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Cellosaurus MUNIi005-A (CVCL_A4PD)

[Text version]
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; 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)

Cross-references
Cell line databases/resources hPSCreg; MUNIi005-A
Biological sample resources BioSamples; SAMEA7873285
Encyclopedic resources Wikidata; Q105510220
Entry history
Entry creation12-Jan-2021
Last entry update29-Jun-2023
Version number6