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Cellosaurus Pre-i3Neuron NGN2 iPSC LRRK2-p.G2019S knock-in (CVCL_C7XK)

[Text version]
Cell line name Pre-i3Neuron NGN2 iPSC LRRK2-p.G2019S knock-in
Accession CVCL_C7XK
Resource Identification Initiative To cite this cell line use: Pre-i3Neuron NGN2 iPSC LRRK2-p.G2019S knock-in (RRID:CVCL_C7XK)
Comments Population: Japanese.
Characteristics: Using TALEN a PuroR-CAG-rtTA3G-NEUROG2 construct was introduced in both alleles of the AAVS1 safe harbor locus thus providing doxycycline-inducible expression of NEUROG2/NGN2 (from parent cell line).
Genetic integration: Method=TALEN; Gene=HGNC; HGNC:13805; NEUROG2.
Genetic integration: Method=TALEN; Gene=UniProtKB; P13249; S.alboniger pac (PuroR).
Miscellaneous: Cell line information from personal communication of Dou, Dan.
Derived from site: In situ; Leg, skin; UBERON=UBERON_0001511.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:18618; LRRK2; Simple_edited; p.Gly2019Ser (c.6055G>A); ClinVar=VCV000001940; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (Direct_author_submission).
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_C7XJ (Pre-i3Neuron NGN2 iPSC clone 1)
Sex of cell Male
Age at sampling 30Y
Category Induced pluripotent stem cell
Cross-references
Encyclopedic resources Wikidata; Q123033275
Entry history
Entry creation29-Jun-2023
Last entry update19-Dec-2024
Version number4