ID   WIBRe001-A-14
AC   CVCL_C7UY
SY   WIBR3_DNAJC6_c.801-2A>G+FS/c.801-2A>G+FS_A12-2; CALe002-A-14
DR   BioSamples; SAMEA114332374
DR   hPSCreg; WIBRe001-A-14
DR   Wikidata; Q123033881
CC   Sequence variation: Mutation; HGNC; 15469; DNAJC6; Simple_edited; c.801-2A>G (IVS6AS,A-G,-2); ClinVar=VCV000088854; Zygosity=Homozygous; Note=By CRISPR/Cas9. Splice acceptor mutation (Direct_author_submission).
CC   Sequence variation: Mutation; HGNC; 15469; DNAJC6; Simple_edited; c.823_824insC; Zygosity=Homozygous; Note=By CRISPR/Cas9 (Direct_author_submission).
CC   Miscellaneous: Cell line not distributed because it failed quality controls (Direct_author_submission).
CC   Miscellaneous: Cell line information from personal communication of Booth, Ezgi O.
CC   Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358.
CC   Cell type: Embryonic stem cell; CL=CL_0002322.
DI   NCIt; C198608; Parkinson disease 19A, juvenile-onset
DI   NCIt; C198609; Parkinson disease 19B, early-onset
DI   ORDO; Orphanet_2828; Young-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_9767 ! WIBR3
SX   Female
AG   Blastocyst stage
CA   Embryonic stem cell
DT   Created: 29-06-23; Last updated: 10-09-24; Version: 5
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