官方服务:
资源简介:
Sequencing of genomic DNA in the RPE
应用场景:
创建时间:
2021-01-09
相关数据集
DataSheet1_Specific correction of pyruvate kinase deficiency-causing point mutations by CRISPR/Cas9 and single-stranded oligodeoxynucleotides.pdf
Pyruvate kinase deficiency (PKD) is an autosomal recessive disorder caused by mutations in the PKLR gene. PKD-erythroid cells suffer from an energy imbalance caused by a reduction of erythroid pyruvat
NIAID Data Ecosystem60
StoneRounds Case: SR538
StoneRounds Case SR538 was diagnosed with AR Retinitis Pigmentosa likely caused by mutations in the gene: TULP1.
DataCite Commons2020-07-30 更新30
ena-DATASET-UCAM-GEL-14-12-2018-11:35:52:103-47 - samples
Short read whole genome sequencing (WGS) CRAM files for the NIHR BioResource Rare Diseases WGS project – Participants from the Inherited Retinal Disorders (IRD) Rare Disease domainEGA dataset EGA
NIAID Data Ecosystem20
Ex vivo therapeutic base and prime editing using chemically derived hepatic progenitors in a mouse model of tyrosinemia type 1. Kim et al.
Bipotent differentiation capacity of HT1-mCdHs. (A) Gene expression levels of mature hepatocyte-specific markers determined by RT-qPCR. Gapdh was used as an internal control. Data are mean ± SD (n=9).
NIAID Data Ecosystem40
Repairing pathogenetic mutations using engineered Prime Editor in vivo
We attempted to repaire genetic mutaions that cause hereditary heart disease using engineered Prime Editing in vivo.
NIAID Data Ecosystem30



