PMID: 33985584

Urine-derived induced pluripotent/neural stem cells for modeling neurological diseases.

Cell & bioscience
Shi, Tianyuan T, Cheung, Martin M
2021-05-13

11 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
X-32834618-C-A DMD c.497G>T p.G166V Missense 6/79 -
5-70240504-G-GC SMN1 c.649_649dupC p.P218Tfs*38 Frameshift 6/9 -
16-29824638-AG-A PRRT2 c.263delG p.S88Tfs*2 Frameshift 2/4 -
X-107929342-G-T COL4A5 c.4298G>T p.G1433V Missense 48/53 -
20-3063681-GC-G AVP c.263delG p.G88Afs*24 Frameshift 2/3 -
8-134108493-T-G TG c.7448T>G p.I2483S Missense 43/48 -
7-150648800-C-G KCNH2 c.1681G>C p.A561P Missense 7/15 -
1-55509689-T-G PCSK9 c.381T>G p.S127R Missense 2/12 -
1-55509689-T-A PCSK9 c.381T>A p.S127R Missense 2/12 -
1-55509687-A-C PCSK9 c.379A>C p.S127R Missense 2/12 -
1-55509618-C-T PCSK9 c.310C>T p.R104C Missense 2/12 -