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BIONi010-C-10 Gene-edited iPSC line

Donor information

Donor karyotype:46, XY

Disease status


Disease: normal

Disease/phenotype related genetic modifications

Disease: MODY
Type of modification: Isogenic
Gene: HNF1A
Chromosome location: 12q24.31
Nucleotide sequence HGSV: NM_000545.6:c.(c.872dup)
Protein sequence HGSV: NP_000536.5:p.(P291fsinsC)
Zygosity: Heterozygous
Target locus modification: Mutated
Description: An additional cytocine has been introduced by CRISPR-Cas9 into a poly-C tract in Exon 4 of HNF1A resulting in a out of frame mutation. It is likely that the other allele has also been targeted, since western blotting did not show any HNF1A protein in Pancreatic progenitor cells compared to the control line BIONi010-C.

General information

Cell line name:BIONi010-C-10
Cell line alternative names:HNF1AP291fsinsC +/- 54-5
Biosamples ID:SAMEA104619380
hPSCreg name:BIONi010-C-10
Derivation country:Denmark

Related lines

Derived from: BIONi010-C
All subclones of BIONi010-C: BIONi010-C-10, BIONi010-C-11, BIONi010-C-12, BIONi010-C-13, BIONi010-C-15, BIONi010-C-17, BIONi010-C-18, BIONi010-C-19, BIONi010-C-2, BIONi010-C-24, BIONi010-C-25, BIONi010-C-3, BIONi010-C-4, BIONi010-C-5, BIONi010-C-6, BIONi010-C-7, BIONi010-C-8, BIONi010-C-9
From the same donor: BIONi010-A, BIONi010-B
No larger chromosomal aberrations to be reported. Chr22: 1,4Mbp duplication in q11.23
At European Collection of Authenticated Cell Cultures (ECACC)
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