Table 1. Summary of FECD case and control-derived corneal endothelial cell (CEC) cultures analysed by short and long-read RNA-seq, and spatial transcriptomics.
Sample | Sex | Age* | Ethnicitya/Ancestryb |
---|---|---|---|
Long-read | |||
Control 1 | Female | 68 | White-Europeana |
Control 2 | Male | 64 | White-Europeana |
Control 3 | Female | 74 | White-Europeana |
Control 4 | Male | 69 | White-Europeana |
FECD1exp+ (43/90) | Female | 74 | White-Europeana,b |
FECD2exp+ (14/80) | Male | 78 | White-Europeana,b |
FECD3exp+ (18/86) | Female | 70 | White-Europeana,b |
FECD4exp+ (26/78) | Female | 45 | White-Europeanb |
Short-read | |||
Control 1 | Female | 68 | White-Europeana |
Control 5 | Male | 55 | White-Europeana |
Control 6 | |||
Control 7 | Female | 56 | Black-Africana |
FECD5exp+ (16/86) | Female | 67 | White-Europeana,b |
FECD6exp+ (12/106) | Male | 69 | White-Europeana,b |
FECD7exp+ (16/94) | Female | 54 | White-Europeana,b |
FECD1exp- (13/18) | Female | 64 | European/Black-Carribbeana Black-Africanb |
FECD2exp- (18/24) | Female | 73 | White-Europeana,b |
FECD3exp- (22/28) | Male | 53 | Black-Africana,b |
Spatial transcriptomics | |||
Control 8 (12/16) | Female | 45 | Black-Africana |
Control 9 (15/33) | Female | 46 | White-Europeana |
Control 10 (25/26) | Male | 70 | White-Europeana |
FECD4exp- (15/15) | Female | 48 | White-Europeana |
FECD5exp- (16/23) | Female | 57 | Black-Africana |
FECD6exp- (15/16) | Female | 58 | Black-Africana |
FECD8exp+ (63/88) | Female | 75 | White-Europeana |
FECD9exp+ (12/76) | Male | 61 | Black-Africana |
FECD10exp+ (18/67) | Male | 65 | White-Europeana |
CTG18.1 expansion status is denoted in brackets for all FECD-case derived CEC lines analysed.
*Age at time of corneal tissue excision.
a Self-reported by affected individual.
b Ancestry determined by applying a principal component analysis (PCA) method, FRAPOSA [22]. All control samples were derived from donor corneas with very high CEC counts (≥2,600 cells/mm2) and endothelium free of guttae or any other abnormalities.