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Cellosaurus LA5 (CVCL_Y949)

[Text version]
Cell line name LA5
Synonyms PARK8-LA5; HPS0101
Accession CVCL_Y949
Resource Identification Initiative To cite this cell line use: LA5 (RRID:CVCL_Y949)
Comments 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; p.Ile2020Thr (c.6059C>T); ClinVar=VCV000001941; Zygosity=Heterozygous (PubMed=26056228).
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 Children:
CVCL_A1YC (KEIUi001-A)
Originate from same individual CVCL_T963 ! LA3
CVCL_Y950 ! LA8
CVCL_Y951 ! LA11
Sex of cell Female
Age at sampling 66Y
Category Induced pluripotent stem cell
Publications

PubMed=26056228; DOI=10.1093/hmg/ddv212
Ohta E., Nihira T., Uchino A., Imaizumi Y., Okada Y., Akamatsu W., Takahashi K., Hayakawa H., Nagai M., Ohyama M., Ryo M., Ogino M., Murayama S., Takashima A., Nishiyama K., Mizuno Y., Mochizuki H., Obata F., Okano H.
I2020T mutant LRRK2 iPSC-derived neurons in the Sagamihara family exhibit increased Tau phosphorylation through the AKT/GSK-3beta signaling pathway.
Hum. Mol. Genet. 24:4879-4900(2015)

Cross-references
Cell line databases/resources SKIP; SKIP000991
Encyclopedic resources Wikidata; Q54901888
Entry history
Entry creation10-Apr-2015
Last entry update29-Jun-2023
Version number8