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Cellosaurus IBMS-iPSC-060-04 (CVCL_A1MB)

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Cell line name IBMS-iPSC-060-04
Synonyms IBMSi024-A
Accession CVCL_A1MB
Resource Identification Initiative To cite this cell line use: IBMS-iPSC-060-04 (RRID:CVCL_A1MB)
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; HGNC:25443; C19orf12; Simple; p.Pro92Thrfs*9 (c.273_274insA); Zygosity=Heterozygous (PubMed=33068888).
Disease Neurodegeneration with brain iron accumulation 4 (NCIt: C175707)
Mitochondrial membrane protein-associated neurodegeneration (ORDO: Orphanet_289560)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 68Y
Category Induced pluripotent stem cell
Publications

PubMed=33068888; DOI=10.1016/j.scr.2020.102032
Han-Yi Lin, Chih-Hsin Ou-Yang, Chin-Hsien Lin;
Reprogramming of a human induced pluripotent stem cell (iPSC) line from a patient with neurodegeneration with brain iron accumulation (NBIA) harboring a novel frameshift mutation in C19orf12 gene.
Stem Cell Res. 49:102032-102032(2020)

Cross-references
Cell line databases/resources hPSCreg; IBMSi024-A
Biological sample resources BioSamples; SAMEA7440417
Encyclopedic resources Wikidata; Q102114194
Entry history
Entry creation29-Oct-2020
Last entry update19-Dec-2024
Version number6