ID   TD-15 corrected clone H02
AC   CVCL_E6KW
SY   TD-15 (isogenic correction)
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:11179; SOD1; Simple_corrected; p.Ile114Thr (c.341T>C) (I113T); ClinVar=VCV000197145; Zygosity=Heterozygous; 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
ST   CSF1PO: 12,13
ST   D13S317: 11
ST   D16S539: 9,12
ST   D21S11: 28,31.2
ST   D5S818: 12,13
ST   D7S820: 9,11
ST   TH01: 7,8
ST   TPOX: 11
ST   vWA: 16,17
DI   NCIt; C168749; Amyotrophic lateral sclerosis 1
DI   ORDO; Orphanet_803; Amyotrophic lateral sclerosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_E6KV ! TD-15
SX   Female
AG   45Y
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).
//