ID   AIW002-02/FUS-H517Q
AC   CVCL_E6KR
SY   FUS-H517Q/AIW002-02; AIW002-02 FUS-H517Q clone B10
RX   PubMed=34500068;
WW   Provider; C-BIG; -; https://cbigr-open.loris.ca/C-BIG_ipsc_catalog_august_2023.pdf
CC   From: Clinical Biospecimen Imaging and Genetic (C-BIG) Repository, Montreal Neurological Institute, McGill University; Montreal; Canada.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:4010; FUS; Simple_edited; p.His517Asp (c.1549C>G); Zygosity=Homozygous; Note=By CRISPR/Cas9 (PubMed=34500068).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
ST   Source(s): PubMed=34500068
ST   Amelogenin: X,Y
ST   CSF1PO: 9,10
ST   D13S317: 12
ST   D16S539: 12,16
ST   D21S11: 29,32.2
ST   D5S818: 12
ST   D7S820: 9,11
ST   TH01: 8,9
ST   TPOX: 8,11
ST   vWA: 14,15
DI   NCIt; C168750; Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia
DI   ORDO; Orphanet_275872; Frontotemporal dementia with motor neuron disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_C0JY ! CBIGi001-A
SX   Male
AG   37Y
CA   Induced pluripotent stem cell
DT   Created: 10-04-25; Last updated: 10-04-25; Version: 1
//
RX   PubMed=34500068; DOI=10.1016/j.ymeth.2021.09.002;
RA   Deneault E., Chaineau M., Nicouleau M., Castellanos-Montiel M.J.,
RA   Franco-Flores A.K., Haghi G., Chen C.X.-Q., Abdian N., Shlaifer I.,
RA   Beitel L.K., Durcan T.M.;
RT   "A streamlined CRISPR workflow to introduce mutations and generate
RT   isogenic iPSCs for modeling amyotrophic lateral sclerosis.";
RL   Methods 203:297-310(2022).
//