Table 1

Summary of 4 human X-CGD iPSC lines that are fully characterized

X-CGD iPSC linePluripotency markersDNA fingerprintingKaryotypeEB formationTeratoma formationT→G CYBB mutation
iXC1 All expressed Identity + 46,XY Present 
iXC6 All expressed Identity + 46,XY Present 
iXC9 All expressed Identity + 46,XY Present 
iXC17 All expressed Identity + 46,XY Present 
X-CGD iPSC linePluripotency markersDNA fingerprintingKaryotypeEB formationTeratoma formationT→G CYBB mutation
iXC1 All expressed Identity + 46,XY Present 
iXC6 All expressed Identity + 46,XY Present 
iXC9 All expressed Identity + 46,XY Present 
iXC17 All expressed Identity + 46,XY Present 

The 4 X-CGD iPSC lines were characterized in detail by all of the listed criteria. All 4 lines were subjected to the same analysis (shown in detail in Figure 1 for line iXC1) including expression of pluripotency markers (alkaline phosphatase activity, TRA-1-60, SSEA-4, OCT4, and NANOG), presence of normal male karyotype, presence of the patient's 458T→G mutation in exon 5 of CYBB, and ability to form EBs ex vivo and teratomas in NSG mice in vivo containing all 3 embryonic germ layer cells and tissues. DNA fingerprinting for all lines confirmed derivation from the patient primary MSCs.

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