GBA1 D448V REV/WT

Product Code: JIPSC1216

Background

Genetics

Gene

GBA1

Condition

Gaucher disease

Allele Charactertistics

Autosomal Recessive/R

View Information in ClinVar

Derived from Cell Line

JIPSC1192_GBA1_D448V_SNV/WT

Genomic Features

Genomic Coordinate (GRCh38)

chr1:155235726 (-)

dbSNP

rs77369218

Genomic Sequence

ACAGTCCCATCATTGTAGACATCACCAAGG[A/T]CACGTTTTACAAACAGCCCATGTTCTACCA
View With Genome Browser

Gene Editing Reagents

Nuclease

SpCas9

Protospacer Sequence

CTGTTTGTAAAACGTGACCT

Donor Template

CGAAGGAGGACCCAATTGGGTGCGTAACTTTGTCGACAGTCCCATCATTGTAGACATCACCAAGGACACGTTTTACAAACAGCCCATGTTCTACCACCTT

DNA Primers for Sequence Validation

PCR Forward

CCCATAACTCCTGCAGAGGC

PCR Reverse

GGGGAACCATGATTCCCTATCTTC

Sanger Sequencing Primer