Matches in SemOpenAlex for { <https://semopenalex.org/work/W4382280053> ?p ?o ?g. }
- W4382280053 abstract "Summary The KOLF2.1J iPSC line was recently proposed as a reference iPSC to promote the standardization of research studies in the stem cell field. Due to overall good performance differentiating to neural cell lineages, high gene editing efficiency, and absence of genetic variants associated to neurological disorders KOLF2.1J iPSC line was particularly recommended for neurodegenerative disease modeling. However, our work uncovers that KOLF2.1J hPSCs carry heterozygous small copy number variants (CNVs) that cause DTNBP1, JARID2 and ASTN2 haploinsufficiencies, all of which are associated with neurological disorders. We further determine that these CNVs arose in vitro over the course of KOLF2.1J iPSC generation from a healthy donor-derived KOLF2 iPSC line and affect the expression of DNTBP1, JARID2 and ASTN2 proteins in KOLF2.1J iPSCs and neural progenitors. Therefore, our study suggests that KOLF2.1J iPSCs carry genetic variants that may be deleterious for neural cell lineages. This data is essential for a careful interpretation of neural cell studies derived from KOLF2.1J iPSCs and highlights the need for a catalogue of iPSC lines that includes a comprehensive genome characterization analysis." @default.
- W4382280053 created "2023-06-28" @default.
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- W4382280053 date "2023-06-27" @default.
- W4382280053 modified "2023-09-27" @default.
- W4382280053 title "High density SNP array and reanalysis of genome sequencing uncovers CNVs associated with neurodevelopmental disorders in KOLF2.1J iPSCs" @default.
- W4382280053 cites W1965871695 @default.
- W4382280053 cites W1967040341 @default.
- W4382280053 cites W1987333766 @default.
- W4382280053 cites W2017596496 @default.
- W4382280053 cites W2027870104 @default.
- W4382280053 cites W2028386886 @default.
- W4382280053 cites W2029707852 @default.
- W4382280053 cites W2033284482 @default.
- W4382280053 cites W2040027262 @default.
- W4382280053 cites W2042325100 @default.
- W4382280053 cites W2043321552 @default.
- W4382280053 cites W2050480410 @default.
- W4382280053 cites W2059130068 @default.
- W4382280053 cites W2059173951 @default.
- W4382280053 cites W2059378220 @default.
- W4382280053 cites W2060961033 @default.
- W4382280053 cites W2066179547 @default.
- W4382280053 cites W2073062083 @default.
- W4382280053 cites W2079870118 @default.
- W4382280053 cites W2083870688 @default.
- W4382280053 cites W2086943348 @default.
- W4382280053 cites W2087786585 @default.
- W4382280053 cites W2088510748 @default.
- W4382280053 cites W2096896015 @default.
- W4382280053 cites W2099849109 @default.
- W4382280053 cites W2108078422 @default.
- W4382280053 cites W2111709760 @default.
- W4382280053 cites W2116937052 @default.
- W4382280053 cites W2120330019 @default.
- W4382280053 cites W2124908646 @default.
- W4382280053 cites W2138977668 @default.
- W4382280053 cites W2141307855 @default.
- W4382280053 cites W2143425330 @default.
- W4382280053 cites W2146005104 @default.
- W4382280053 cites W2149681218 @default.
- W4382280053 cites W2154535417 @default.
- W4382280053 cites W2155294359 @default.
- W4382280053 cites W2156464135 @default.
- W4382280053 cites W2162098634 @default.
- W4382280053 cites W2163302580 @default.
- W4382280053 cites W2167250543 @default.
- W4382280053 cites W2235737683 @default.
- W4382280053 cites W2512539438 @default.
- W4382280053 cites W2518689855 @default.
- W4382280053 cites W2522895022 @default.
- W4382280053 cites W2586387028 @default.
- W4382280053 cites W2593381198 @default.
- W4382280053 cites W2789843538 @default.
- W4382280053 cites W2803819386 @default.
- W4382280053 cites W2883480695 @default.
- W4382280053 cites W2889664156 @default.
- W4382280053 cites W2900824724 @default.
- W4382280053 cites W2945156762 @default.
- W4382280053 cites W2946322395 @default.
- W4382280053 cites W2950708207 @default.
- W4382280053 cites W2967789674 @default.
- W4382280053 cites W2977435184 @default.
- W4382280053 cites W2983259024 @default.
- W4382280053 cites W2993946495 @default.
- W4382280053 cites W3029661147 @default.
- W4382280053 cites W3032034316 @default.
- W4382280053 cites W3034168806 @default.
- W4382280053 cites W3092820651 @default.
- W4382280053 cites W3130788486 @default.
- W4382280053 cites W3146657786 @default.
- W4382280053 cites W3152941255 @default.
- W4382280053 cites W4210782186 @default.
- W4382280053 cites W4213359145 @default.
- W4382280053 cites W4220680064 @default.
- W4382280053 cites W4229441779 @default.
- W4382280053 cites W4254737936 @default.
- W4382280053 cites W4282565285 @default.
- W4382280053 cites W4286797672 @default.
- W4382280053 cites W4289262011 @default.
- W4382280053 cites W4290995827 @default.
- W4382280053 cites W4292870483 @default.
- W4382280053 cites W4310773007 @default.
- W4382280053 cites W4383905172 @default.