iPS Cells JAX iPSC Catalog JIPSC001048

CSF1R E633K REV/WT

Product Code: JIPSC001048

Overview

Genetics

Gene
CSF1R
Condition
Hereditary diffuse leukoencephalopathy with spheroids
Allele Characteristics
Autosomal Dominant
Derived from Cell Line
JIPSC001046

Genomic Feature

Genomic Coordinate(GRCh38)
chr5:150060934 (-)
dbSNP
rs281860269
Genomic Sequence
CATGCTGATGAGAAGGAGGCCCTCATGTCC[G/A]AGCTGAAGATCATGAGCCACCTGGGCCAGC

Gene Editing Reagents

Gene Editor
SpCas9
Protospacer Sequence
1_TGATCTTCAGCTTGGACATG
Donor Template
1_CTGTCTTTGGGACTGTGGTTCTTCCTCCCAGCCACGGCCCATGCTGATGAGAAGGAGGCCCTCATGTCCGAGCTGAAGATCATGAGCCACCTGGGCCAGC

DNA Primers for Sequence Validation

PCR Forward
ACATTTCAACCTGTTGAAGCCTGGG
PCR Reverse
CAGTGAAGAGGATGTGGGGCACTTG
Sequencing Primer
ACCTCCATGGGTACAGGCTC

Quality Control Data and Supplementary Information

Karyotype & Array Data

Array
Karyotype

Sequence Maps

Genbank
SnapgeneDNA
SnapgenePDF

Sequencing

Lead Clone Sanger Sequencing
SangerPE

Related Cell Lines

Product Code Parental Line Gene Variant Genotype
JIPSC001044 KOLF2.1J CSF1R E633K SNV/SNV
JIPSC001046 KOLF2.1J CSF1R E633K SNV/WT
CSF1R E633K 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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