Table 1.

Summary of single-cell studies in CLL

ReferenceSample inputMethodologyInsight
Zhao et al49  116 CLL cells from 2 time points Whole-genome DNA amplification in individual PCR tubes sCNA identified and subclonal architecture determined 
Wang et al50  1152 CLL cells from 5 patients Plate-based targeted multiplex PCR assay following whole-genome amplification sCNA and sSNV identified and subclonal architecture determined 
Landau et al58  393 CD19+ B cells from 2 healthy donors and 111 CLL cells from 1 patient Multiplexed scRRBS Uniformly high proportion of discordant reads in CLL cells compared with normal B cells 
Chaligne et al59  383 CD19+ B cells from 4 healthy donors and 324 CLL cells from 3 patients Multiplexed scRRBS Epigenetic phylogenetic tree reconstruction 
Chaligne et al59  42 CLL cells Multiplexed scRRBS and scRNA sequencing Increasing phylogenetic distance correlates with decreasing transcriptional similarity 
Zhao et al49  362 CLL cells from 5 time points (35-126 cells per time point) Plate-based Smart-Seq2 scRNA sequencing Identification of 6 transcriptional clusters and their evolution over time and with treatment 
Wang et al50  289 CLL cells from 4 patients Fluidigm C1 System Smart-Seq scRNA sequencing Using pathway and gene set overdispersion analysis identified unique biological processes demonstrating transcriptional heterogeneity 
Wang et al44  845 CLL cells from 6 patients Plate-based targeted qPCR using Fluidigm BioMark Single-cell correlation of alternative splicing variants with SF3B1 mutational status 
Landau et al13  310 CLL cells from 4 patients Fluidigm C1 System Smart-Seq scRNA sequencing Correlational of single-cell transcriptional heterogeneity with methylation data 
Burger et al12  473 cells from 3 time points Plate-based targeted qPCR using Fluidigm BioMark Mutation detection to determine subclonal architecture 
Burger et al12   Polydimethylsiloxane microfluidic device and targeted qPCR High-sensitivity mutation detection, including demonstration of the presence of rare resistant cells before ibrutinib initiation 
ReferenceSample inputMethodologyInsight
Zhao et al49  116 CLL cells from 2 time points Whole-genome DNA amplification in individual PCR tubes sCNA identified and subclonal architecture determined 
Wang et al50  1152 CLL cells from 5 patients Plate-based targeted multiplex PCR assay following whole-genome amplification sCNA and sSNV identified and subclonal architecture determined 
Landau et al58  393 CD19+ B cells from 2 healthy donors and 111 CLL cells from 1 patient Multiplexed scRRBS Uniformly high proportion of discordant reads in CLL cells compared with normal B cells 
Chaligne et al59  383 CD19+ B cells from 4 healthy donors and 324 CLL cells from 3 patients Multiplexed scRRBS Epigenetic phylogenetic tree reconstruction 
Chaligne et al59  42 CLL cells Multiplexed scRRBS and scRNA sequencing Increasing phylogenetic distance correlates with decreasing transcriptional similarity 
Zhao et al49  362 CLL cells from 5 time points (35-126 cells per time point) Plate-based Smart-Seq2 scRNA sequencing Identification of 6 transcriptional clusters and their evolution over time and with treatment 
Wang et al50  289 CLL cells from 4 patients Fluidigm C1 System Smart-Seq scRNA sequencing Using pathway and gene set overdispersion analysis identified unique biological processes demonstrating transcriptional heterogeneity 
Wang et al44  845 CLL cells from 6 patients Plate-based targeted qPCR using Fluidigm BioMark Single-cell correlation of alternative splicing variants with SF3B1 mutational status 
Landau et al13  310 CLL cells from 4 patients Fluidigm C1 System Smart-Seq scRNA sequencing Correlational of single-cell transcriptional heterogeneity with methylation data 
Burger et al12  473 cells from 3 time points Plate-based targeted qPCR using Fluidigm BioMark Mutation detection to determine subclonal architecture 
Burger et al12   Polydimethylsiloxane microfluidic device and targeted qPCR High-sensitivity mutation detection, including demonstration of the presence of rare resistant cells before ibrutinib initiation 

PCR, polymerase chain reaction; qPCR, quantitative PCR; sCNA, somatic copy number alteration; scRNA, single-cell RNA; scRRBS, single-cell reduced representation bisulfite sequencing; sSNV, somatic single nucleotide variant.

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