ID   FINi002-A-1
AC   CVCL_C8SS
SY   FI.PK006(AAVS1::CAGG-iM.jRCaMP1b)
DR   hPSCreg; FINi002-A-1
DR   Wikidata; Q123031281
CC   From: The Florey Institute of Neuroscience and Mental Health, University of Melbourne; Melbourne; Australia.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 8607; PRKN; Simple; p.Arg275Trp (c.823C>T); ClinVar=VCV000007050; Zygosity=Heterozygous (from parent cell line).
CC   Sequence variation: Mutation; HGNC; 8607; PRKN; Unexplicit; Ex8del; Zygosity=Heterozygous (from parent cell line).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C198603; Parkinson disease 2, autosomal recessive juvenile
DI   ORDO; Orphanet_2828; Young-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_C8H8 ! FINi002-A
SX   Male
AG   49Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 30-01-24; Version: 2
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