PINK1 A217D SNV/SNV

Product Code: JIPSC1488

Background

Genetics

Gene

PINK1

Condition

Parkinson disease, early onset

Allele Charactertistics

Autosomal Recessive

View Information in ClinVar

Derived from Cell Line

JIPSC1000_KOLF2.1J

Genomic Features

Genomic Coordinate (GRCh38)

chr1:20638104 (+)

dbSNP

rs74315360

Genomic Sequence

GAGCTCCGGGGGCCCCTGCCTTCCCCTTGG[C/A]CATCAAGATGATGTGGAACATCTCGGTAAG
View With Genome Browser

Gene Editing Reagents

Nuclease

SpCas9

Protospacer Sequence

CCACATCATCTTGATGGCCA

Donor Template

CCCAGGTACCAGTGCACCAGGAGAAGGGCAGGAGCGAGCTCCGGGGGCCCCTGCCTTCCCCTTGGACATCAAGATGATGTGGAACATCTCGGTAAGCACC

DNA Primers for Sequence Validation

PCR Forward

CAATTTTTACCCAGAAAAGCAAGCC

PCR Reverse

TTAAAGGAAAGAGATCCAGTTCCCC

Sanger Sequencing Primer

TCTGATAGGGCAGTCCATTG

Quality Control Data

Certification of Quality Analysis

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Sequencing