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STBCi006-A-1 Gene-edited iPSC line

Donor information


Disease status


Disease: Alzheimer's disease
Affected: Yes
Carrier: Yes
Disease variant
Gene: ApoE
Chromosome location: 19q13.3
Nucleotide sequence HGSV: NM_000041.4:c.388T>C
Protein sequence HGSV: NP_000032.1:p.Cys130Arg
Zygosity: Homozygous
ClinVar ID: SCV000039748.4
dbSNP ID: rs429358
Description: The genotype at base position described by rs429358 is C/C, coding Arg, contributing to ApoE4/E4 variant
Disease variant
Gene: ApoE
Chromosome location: 19q13.32
Nucleotide sequence HGSV: NM_000041.3:c.526C
Protein sequence HGSV: NP_000032.1:p.Arg176
Zygosity: Homozygous
dbSNP ID: rs7412
Description: The genotype at base position described by rs7412 is C/C, coding Arg, contributing to ApoE4/E4 variant.

Disease/phenotype related genetic modifications

Disease: Alzheimer's disease
Type of modification: Gene knock-out
Gene: ApoE
Chromosome location: 19q13.32
Delivery method: CRISPR-associated (CRISPR/Cas) System
Description: The ApoE gene is knocked out in this line; the first exon of the ApoE gene was destroyed.

General information

Cell line name:STBCi006-A-1
Cell line alternative names:ApoE KO
Biosamples ID:SAMEA104243170
hPSCreg name:STBCi006-A-1
Derivation country:Denmark

Related lines

Derived from: STBCi006-A
All subclones of STBCi006-A: STBCi006-A-1, STBCi006-A-3, STBCi006-A-4
This line is part of a set of isogenic APOE lines based on the iPS cell line STBCi006-A. The set comprises the following APOE genotypes: • STBCi006-A-3 (APOE 3/3) • STBCi006-A-4 (APOE 3/4) • STBCi006-A (APOE 4/4) • STBCi006-A-1 (APOE KO) A DNA SNP array revealed a duplication of 2 MB on chromosome 20q, with significant genes involved (refer to “SNP typing array” in the Genotyping section for more information). This duplication was found in all isogenic lines generated from STBCi006-A. Other isogenic ApoE cell line cohorts are also available, generated from BIONi010-C, BIONi37-A and UKBi011-A.
At European Collection of Authenticated Cell Cultures (ECACC)
In stock
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