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Cellosaurus CIBi014-A (CVCL_C6TK)

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Cell line name CIBi014-A
Synonyms LRRK2_c.5136A>T
Accession CVCL_C6TK
Resource Identification Initiative To cite this cell line use: CIBi014-A (RRID:CVCL_C6TK)
Comments From: Cell Inspire Biotechnology; Shenzhen; China.
Population: Chinese; Han.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:18618; LRRK2; Simple; p.Leu1712Phe (c.5136A>T); Zygosity=Heterozygous (PubMed=36528012).
Disease Parkinson disease 8, autosomal dominant (NCIt: C198605)
Hereditary late-onset Parkinson disease (ORDO: Orphanet_411602)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 50Y
Category Induced pluripotent stem cell
Publications

PubMed=36528012; DOI=10.1016/j.scr.2022.102995
Ling-Fei Li, Xiao-Li Si, Jia-Yin Yang, Ming Lei, Hui-Fang Liu, Jie Ruan, Han-Ting Fu, Wen-Xuan Li, Hui Yang, Xiao-Guang Lei, Hong-Fei Sang;
Generation of a human iPSC line (CIBi014-A) from a patient with Parkinson's disease carrying a novel heterozygotic PARK8 (LRRK2) mutation.
Stem Cell Res. 66:102995-102995(2023)

Cross-references
Cell line databases/resources hPSCreg; CIBi014-A
Encyclopedic resources Wikidata; Q117704253
Entry history
Entry creation21-Mar-2023
Last entry update19-Dec-2024
Version number3