Table 1.
iPS cell line | Age/gender of donor | APECED disease components | AIRE mutation |
---|---|---|---|
137 | 17/female | CMC, HPT, AD | homozygote R257X (c.769 C>T) |
138 | 15/female | CMC, HPT, AD, TIN | homozygote R257X (c.769 C>T) |
HEL24.3 | neonate/male | N/A | none |
CMC, chronic mucocutaneous candidiasis; HPT, hypoparathyroidism; AD, Addison’s disease; TIN, tubulo-interstitial nephritis.