ID   IBMS-iPSC-048-05
AC   CVCL_YC08
SY   IBMSi019-A
DR   hPSCreg; IBMSi019-A
DR   SKIP; SKIP005734
DR   Wikidata; Q94313075
RX   PubMed=32151952;
CC   From: Institute of Biomedical Sciences, Academia Sinica; Taipei; Taiwan.
CC   Population: Chinese.
CC   Sequence variation: Mutation; HGNC; 28337; C9orf72; Repeat_expansion; c.-45+163GGGGCC[>24] (GGGGCC repeat expansion); ClinVar=VCV000031151; Zygosity=Unspecified (PubMed=32151952).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C168756; Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
DI   ORDO; Orphanet_803; Amyotrophic lateral sclerosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   58Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-19; Last updated: 29-06-23; Version: 7
//
RX   PubMed=32151952; DOI=10.1016/j.scr.2020.101734;
RA   Lin H.-Y., Tsai L.-K., Cheng Y.-C., Lu H.-E., Huang C.-Y.,
RA   Hsieh P.C.-H., Lin C.-H.;
RT   "Generation of a human induced pluripotent stem cell (iPSC) line
RT   (IBMS-iPSC-048-05) from a patient with ALS and parkinsonism having a
RT   hexanucleotide repeat expansion mutation in C9orf72 gene.";
RL   Stem Cell Res. 44:101734-101734(2020).
//