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Cellosaurus IBMS-iPSC-048-05 (CVCL_YC08)

[Text version]
Cell line name IBMS-iPSC-048-05
Synonyms IBMSi019-A
Accession CVCL_YC08
Resource Identification Initiative To cite this cell line use: IBMS-iPSC-048-05 (RRID:CVCL_YC08)
Comments From: Institute of Biomedical Sciences, Academia Sinica; Taipei; Taiwan.
Population: Chinese.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 28337; C9orf72; Repeat_expansion; c.-45+163GGGGCC[>24] (GGGGCC repeat expansion); ClinVar=VCV000031151; Zygosity=Unspecified (PubMed=32151952).
Disease Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 (NCIt: C168756)
Amyotrophic lateral sclerosis (ORDO: Orphanet_803)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 58Y
Category Induced pluripotent stem cell
Publications

PubMed=32151952; DOI=10.1016/j.scr.2020.101734
Lin H.-Y., Tsai L.-K., Cheng Y.-C., Lu H.-E., Huang C.-Y., Hsieh P.C.-H., Lin C.-H.
Generation of a human induced pluripotent stem cell (iPSC) line (IBMS-iPSC-048-05) from a patient with ALS and parkinsonism having a hexanucleotide repeat expansion mutation in C9orf72 gene.
Stem Cell Res. 44:101734-101734(2020)

Cross-references
Cell line databases/resources hPSCreg; IBMSi019-A
SKIP; SKIP005734
Encyclopedic resources Wikidata; Q94313075
Entry history
Entry creation19-Dec-2019
Last entry update29-Jun-2023
Version number7