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Cellosaurus PUMCHi019-A (CVCL_B5SF)

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Cell line name PUMCHi019-A
Accession CVCL_B5SF
Resource Identification Initiative To cite this cell line use: PUMCHi019-A (RRID:CVCL_B5SF)
Comments From: Peking Union Medical College Hospital; Beijing; China.
Population: Chinese; Han.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:8140; OPA1; Simple; p.Ser269Pro (c.805T>C); ClinVar=VCV001185094; Zygosity=Heterozygous; Note=De novo mutation (PubMed=35152176).
Disease Optic atrophy 1 (NCIt: C169000)
Autosomal dominant optic atrophy, classic form (ORDO: Orphanet_98673)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 6Y
Category Induced pluripotent stem cell
Publications

PubMed=35152176; DOI=10.1016/j.scr.2022.102705
Zi-Xi Sun, Shi-Jing Wu, Tian Zhu, Xing Wei, Xiao-Xu Han, Xuan Zou, Rui-Fang Sui;
Generation of a human induced pluripotent stem cell line PUMCHi019-A from a dominant optic atrophy patient with an OPA1 mutation.
Stem Cell Res. 60:102705-102705(2022)

Cross-references
Cell line databases/resources hPSCreg; PUMCHi019-A
Biological sample resources BioSamples; SAMEA12789792
Encyclopedic resources Wikidata; Q112041633
Entry history
Entry creation17-Mar-2022
Last entry update19-Dec-2024
Version number5