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Cellosaurus AIW002-02/MAPT-P301L (CVCL_E6KS)

[Text version]
Cell line name AIW002-02/MAPT-P301L
Synonyms MAPT-P301L/AIW002-02
Accession CVCL_E6KS
Resource Identification Initiative To cite this cell line use: AIW002-02/MAPT-P301L (RRID:CVCL_E6KS)
Comments From: Clinical Biospecimen Imaging and Genetic (C-BIG) Repository, Montreal Neurological Institute, McGill University; Montreal; Canada.
Population: Caucasian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:6893; MAPT; Simple_edited; p.Pro301Leu (c.902C>T) (P618L, c.1853C>T or P636L, c.1907C>T); ClinVar=VCV000014245; Zygosity=Unspecified; Note=By CRISPR/Cas9 (C-BIG).
Disease Frontotemporal dementia (NCIt: C84719)
Behavioral variant of frontotemporal dementia (ORDO: Orphanet_275864)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_C0JY (CBIGi001-A)
Sex of cell Male
Age at sampling 37Y
Category Induced pluripotent stem cell
Web pages Info; McGill; -; https://www.mcgill.ca/neuro/files/neuro/mapt-ko-aiw002-02-datasheet.pdf
Provider; C-BIG; -; https://cbigr-open.loris.ca/C-BIG_ipsc_catalog_august_2023.pdf
Entry history
Entry creation10-Apr-2025
Last entry update10-Apr-2025
Version number1