Table 1.
Genotype of patient cells included in the study (NPC1 RefSeq cDNA NM_000271.4, NPC2 RefSeq cDNA NM_006432.3, genomic DNA NG_007117.1)
| Patient cells | NPC1 allele 1 | NPC1 allele 2 | |
|---|---|---|---|
| GM18453 (NPC1I1061T/I1061T) | c.3182 T>C (p.I1061T) | c.3182 T>C (p.I1061T) | |
| GM18417 (NPC1I1061T/I1061T) | c.3182 T>C (p.I1061T) | c.3182 T>C (p.I1061T) | |
| GM18436 (NPC1E612D/542fsX) | c.1836A>C (p.E612D) | c.1628delC (p.F542fsX) | |
| NPC1 null (NPC1−/−) | c.1628delC (p.F542fsX) | c.1628delC (p.F542fsX) | |
| Patient cells | NPC2 allele 1 | NPC2 allele 2 | |
| NPC2 null (NPC2−/−) | c.IVS2 + 5G→A (c.190 + 5G>A) (p.0) | c.IVS2 + 5G→A (c.190 + 5G>A) (p.0) | |