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BIONi010-C-12 Gene-edited iPSC line

Donor information

Gender:Male
Donor karyotype:46, XY

Disease status

Donor

Disease: normal

Disease/phenotype related genetic modifications

Disease: MODY
Type of modification: Isogenic
Gene: HNF4A
Chromosome location: 20q13.12
Nucleotide sequence HGSV: NM_175914.4:c.925C>T
Protein sequence HGSV: NP_787110.2:p.(p.Arg309Cys)
Zygosity: Homozygous
Target locus modification: Mutated
Description: A Cytocine to Tyrosine mutation was introduced into both alleles of exon 8 in HNF4A resulting in a mutation previously shown to cause MODY1 in patients.

General information

Depositor:Bioneer
Cell line name:BIONi010-C-12
Cell line alternative names:HNF4ApR309C -/- 2-4
Biosamples ID:SAMEA104619383
hPSCreg name:BIONi010-C-12
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)
Restocking
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