GBA1 E326K REV/WT

Product Code: JIPSC002008

Overview

Genetics

Gene
GBA1
Condition
Gaucher disease 1
Allele Characteristics
Autosomal Recessive
Derived from Cell Line
JIPSC002006
Other names (e.g. ClinVar)
E365K, E278K, E316K

Genomic Feature

Genomic Coordinate(GRCh38)
chr1:155236376 (-)
dbSNP
rs2230288
Genomic Sequence
TTTCTGGCTCCAGCCAAAGCCACCCTAGGG[G/A]AGACACACCGCCTGTTCCCCAACACCATGC

Gene Editing Reagents

Gene Editor
SpCas9
Protospacer Sequence
1_ACAGGCGGTGTGTCTTCCCT
Donor Template
1_TATGTTCATGGCATTGCTGTACATTGGTACCTGGACTTTCTGGCTCCAGCCAAAGCCACCCTAGGGGAGACACACCGCCTGTTCCCCAACACCATGCTCT

DNA Primers for Sequence Validation

PCR Forward
CAAGGTCCAGGATCAGTTGCTCTTC
PCR Reverse
GTGGTGTAGAGTGATGTAAGCCATC
Sequencing Primer
CTTTGCAGGAAGGGAGACTG

Quality Control Data and Supplementary Information

Karyotype & Array Data


Sequence Maps


Sequencing

Lead Clone Sanger Sequencing
SangerPE

Certification of Quality Analysis

Related Cell Lines

GBA1 E326K REV/WT

Pricing and Availability

Pricing per vial is $410 for not-for-profit entities and $820 for for-profit customers. When ordering any SNV and Revertant combination, a discount will be applied in the emailed order confirmation.


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