Table 1. Properties of all iPSC lines used in this study.

Individual	Sex	Disease status	iPSC lines	TXNL4A allele 1 genotype	TXNL4A allele 2 genotype	iPSC Karyotype
Patient	F	Burn-McKeown syndrome with intellectual disability	KW181A, KW181B	chr18: g.77,748,262delA, RefSeq NM_006701.2; c.131delT (p.Val44Alafs*48)	Promoter type 1 Δ34bp	46XX, normal
Mother	F	Unaffected	KW191A, KW191B	chr18: g.77,748,262delA, RefSeq NM_006701.2; c.131delT (p.Val44Alafs*48)	Wildtype	46XX, normal
Father	M	Unaffected	NA	Wildtype	Promoter type 1 Δ34bp	NA
Unrelated control 1	M	Unaffected	SW162C	Wildtype	Wildtype	46XY, normal (1 full and.1 partial karyotype only due to poor sample quality)
Unrelated control 2	M	Unaffected	SW171A	Wildtype	Wildtype	46XY, normal

Summary of the iPSC lines generated and/or characterised in this study along with phenotype information for the corresponding individuals from which the iPSCs were derived. Genomic coordinates are described using the GRCh37/hg19 reference genome.