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BIONi010-C-11 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: Homozygous
Target locus modification: Mutated
Description: An additional cytocine has been introduced by CRISPR-Cas9 into a poly-C tract in both alleles of Exon 4 of HNF1A resulting in a out of frame mutation. 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-11
Cell line alternative names:HNF1AP291fsinsC -/- 66-1
Biosamples ID:SAMEA104619382
hPSCreg name:BIONi010-C-11
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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