Cellosaurus logo
expasy logo

Cellosaurus AIW002-02/FUS-H517Q (CVCL_E6KR)

[Text version]
Cell line name AIW002-02/FUS-H517Q
Synonyms FUS-H517Q/AIW002-02; AIW002-02 FUS-H517Q clone B10
Accession CVCL_E6KR
Resource Identification Initiative To cite this cell line use: AIW002-02/FUS-H517Q (RRID:CVCL_E6KR)
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:4010; FUS; Simple_edited; p.His517Asp (c.1549C>G); Zygosity=Homozygous; Note=By CRISPR/Cas9 (PubMed=34500068).
Disease Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia (NCIt: C168750)
Frontotemporal dementia with motor neuron disease (ORDO: Orphanet_275872)
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
STR profile Source(s): PubMed=34500068

Markers:
AmelogeninX,Y
CSF1PO9,10
D5S81812
D7S8209,11
D13S31712
D16S53912,16
D21S1129,32.2
TH018,9
TPOX8,11
vWA14,15

Run an STR similarity search on this cell line
Web pages Provider; C-BIG; -; https://cbigr-open.loris.ca/C-BIG_ipsc_catalog_august_2023.pdf
Publications

PubMed=34500068; DOI=10.1016/j.ymeth.2021.09.002
Deneault E., Chaineau M., Nicouleau M., Castellanos-Montiel M.J., Franco-Flores A.K., Haghi G., Chen C.X.-Q., Abdian N., Shlaifer I., Beitel L.K., Durcan T.M.
A streamlined CRISPR workflow to introduce mutations and generate isogenic iPSCs for modeling amyotrophic lateral sclerosis.
Methods 203:297-310(2022)

Entry history
Entry creation10-Apr-2025
Last entry update10-Apr-2025
Version number1