STBCi006-A-3 Gene-edited iPSC line
Donor information | |
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Gender: | Female |
Disease status | |
Donor | |
Disease: | Alzheimer's disease |
Affected: | Yes |
Carrier: | Yes |
Disease variant | |
Gene: | ApoE |
Chromosome location: | 19q13.3 |
Nucleotide sequence HGVS: | NM_000041.4:c.388T>C |
Protein sequence HGVS: | 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 HGVS: | NM_000041.3:c.526C |
Protein sequence HGVS: | 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 |
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Disease: | Alzheimer's disease |
Type of modification: | Isogenic |
Gene: | ApoE |
Chromosome location: | 19q13.32 |
Nucleotide sequence HGVS: | NM_000041.4:c.388C>T |
Protein sequence HGVS: | NP_000032.1:p.Arg130Cys |
Zygosity: | Homozygous |
Target locus modification: | Changed |
Description: | STBCi006-A-3 ApoE3/E3 is an isogenic mutant of STBCi006-A (ApoE4/E4); The genotype at base position described by rs429358 has been modified in the subclone from C/C to T/T, which changes aa from Arg to Cys. Together with a C/C genotype at rs7412 these define a ApoE3/E3 genotype in the subclone. Please see chromatogram for confirmation of the base changes in the subclone. |
General information | |
Depositor: | Bioneer |
Cell line name: | STBCi006-A-3 |
Cell line alternative names: | ApoE 3/3 |
Biosamples ID: | SAMEA104243172 |
hPSCreg name: | STBCi006-A-3 |
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.
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Derivation
Derivation
Primary cell type: - Reprogramming method
Vector type: Non-integrating Vector: Sendai virus Is the reprogramming vector detectable: No Derivation
Xeno free conditions: no Derived under gmp: no Available as clinical grade: no -
Culture conditions
Culture Conditions
Surface coating: Matrigel/Geltrex Passage method: Enzyme-free cell dissociation / EDTA O2 concentration: 18% CO2 concentration: 5% Culture medium: Essential 8™ Passage Number banked (pre-EBiSC): 37 No. Vials banked (pre-EBiSC): 30 -
Characterization
Characterization
Microbiology / Virus Screening
HIV 1: Negative HIV 2: Negative Hepatitis B: Negative Hepatitis C: Negative Mycoplasma: Negative -
Genotyping
Genotyping
Karyotyping
Passage number: 28 Cell line karyotype: 46, XX Karyotyping method: G-Banding Image / Result Genotyping
Genome-wide analysis: SNP typing array
Data file -
Genetic modification
Genetic modification
Disease/phenotype related modifications
Disease: Alzheimer's disease Type of modification: Isogenic Gene: ApoE Chromosome location: 19q13.32 Nucleotide sequence HGVS: NM_000041.4:c.388C>T Protein sequence HGVS: NP_000032.1:p.Arg130Cys Zygosity: Homozygous Target locus modification: Changed Description: STBCi006-A-3 ApoE3/E3 is an isogenic mutant of STBCi006-A (ApoE4/E4); The genotype at base position described by rs429358 has been modified in the subclone from C/C to T/T, which changes aa from Arg to Cys. Together with a C/C genotype at rs7412 these define a ApoE3/E3 genotype in the subclone. Please see chromatogram for confirmation of the base changes in the subclone.
At European Collection of Authenticated Cell Cultures (ECACC)
Restocking
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