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Cellosaurus KEIUi001-A (CVCL_A1YC)

[Text version]
Cell line name KEIUi001-A
Synonyms LA5-GC TALEN
Accession CVCL_A1YC
Resource Identification Initiative To cite this cell line use: KEIUi001-A (RRID:CVCL_A1YC)
Comments From: Keio University; Tokyo; Japan.
Population: Japanese.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 18618; LRRK2; Simple_corrected; p.Ile2020Thr (c.6059C>T); ClinVar=VCV000001941; Zygosity=Heterozygous; Note=By TALEN (PubMed=33181472).
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)
Hierarchy Parent: CVCL_Y949 (LA5)
Sex of cell Female
Age at sampling 66Y
Category Induced pluripotent stem cell
Publications

PubMed=33181472; DOI=10.1016/j.scr.2020.102073
Ohta E., Sone T., Ukai H., Hisamatsu T., Kitagawa T., Ishikawa M., Nagai M., Ueda H.R., Obata F., Okano H.
Generation of gene-corrected iPSCs line (KEIUi001-A) from a PARK8 patient iPSCs with familial Parkinson's disease carrying the I2020T mutation in LRRK2.
Stem Cell Res. 49:102073-102073(2020)

Cross-references
Cell line databases/resources hPSCreg; KEIUi001-A
Encyclopedic resources Wikidata; Q105509773
Entry history
Entry creation12-Jan-2021
Last entry update29-Jun-2023
Version number5