Skip to main content
. 2024 May 7;20(5):e1011230. doi: 10.1371/journal.pgen.1011230

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.