Log in

UKBi011-A-1 Gene-edited iPSC line

Donor information

Gender:Male
Ethnicity:Caucasia, German

Disease status

Donor

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; deletion of the ApoE gene by insertion of a stop codon and a frame shift in exon 1. The target locus has been mutated.

General information

Depositor:Bioneer
Cell line name:UKBi011-A-1
Cell line alternative names:iLB-AD + ApoE KO
Biosamples ID:SAMEA104243174
hPSCreg name:UKBi011-A-1
Derivation country:Denmark

Related lines

Derived from: UKBi011-A
All subclones of UKBi011-A: UKBi011-A-1, UKBi011-A-2, UKBi011-A-3, UKBi011-A-4
APOE KO line
At European Collection of Authenticated Cell Cultures (ECACC)
Restocking
Cell Line Information Pack
A Cell Line Information Pack (CLIP) is created to communicate cell line specific information relating to restrictions on use to a user accessing cell lines from EBiSC. A CLIP contains information about a cell line including any specific third party obligations (TPOs) relating to, for example, intellectual property (IP) or the donor consent which affect the use of the cell line.