If both parents exhibit completely normal karyotypes, the recurrence risks cited are low and are strictly empirical.
(A) Twenty metaphase cells of the knock-in hESCs were examined and exhibited normal karyotypes.
Four structural abnormalities were noted on postnatal examination; all four neonates had normal karyotypes.
(A) Metaphase cells of the knock-in hESCs were examined and exhibited normal karyotypes.
Clonal PIG-A null hESCs and iPSCs with normal karyotypes were readily obtained.
All the three ESC lines displayed normal karyotypes and morphologies indistinguishable from those of WT-ESCs (Fig. 1B and 2A).
These NPG-ESCs had normal karyotypes (40, XY for male) and maintained alkaline phosphatase (AP) activity for more than 15 passages (Fig. 1A and 1F).
These knock-in hESCs have normal karyotypes and can form well-differentiated teratomas in immunodeficient mice, confirming their pluripotency (Fig. 2A and 2B).
A few cases with spontaneous remission, which in one case was transient, mimicking TMD of Down syndrome, have been described in neonates with normal karyotypes [2, 8, 9].
Knock-in hESCs showed normal karyotypes (Fig. 2A) and retained the potential to differentiate into all three germ layers including neuroectoderm (Fig. 2B and 2C).
Expression of pluripotency genes (OCT4, SOX2, LIN28A, NANOG, GDF3, SSEA4, and TRA-1-60), differentiation potential to all three germ layers, and normal karyotypes are validated.
