ID   Pre-i3Neuron NGN2 iPSC LRRK2-p.G2019S knock-in
AC   CVCL_C7XK
DR   Wikidata; Q123033275
CC   Population: Japanese.
CC   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).
CC   Sequence variation: Mutation; HGNC; HGNC:18618; LRRK2; Simple_edited; p.Gly2019Ser (c.6055G>A); ClinVar=VCV000001940; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (Direct_author_submission).
CC   Genetic integration: Method=TALEN; Gene=HGNC; HGNC:13805; NEUROG2.
CC   Genetic integration: Method=TALEN; Gene=UniProtKB; P13249; S.alboniger pac (PuroR).
CC   Miscellaneous: Cell line information from personal communication of Dou, Dan.
CC   Derived from site: In situ; Leg, skin; UBERON=UBERON_0001511.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C198605; Parkinson disease 8, autosomal dominant
DI   ORDO; Orphanet_411602; Hereditary late-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_C7XJ ! Pre-i3Neuron NGN2 iPSC clone 1
SX   Male
AG   30Y
CA   Induced pluripotent stem cell
DT   Created: 29-06-23; Last updated: 19-12-24; Version: 4
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