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. Author manuscript; available in PMC: 2021 Jul 1.
Published in final edited form as: Mol Genet Metab. 2020 May 11;130(3):183–196. doi: 10.1016/j.ymgme.2020.05.003

Table 1:

List of PA and MMA donors with their genotypes used in these experiments.

Patient ID Disease Genetic Mutation
PA1 Propionic
acidemia		 PCCA c.350G>A p.G117D homozygous
PA2 Propionic
acidemia		 PCCA c.350G>A p.G117D homozygous
PA3 Propionic
acidemia		 PCCA c.419A>G (p.H140R) homozygous
PA4 Propionic
acidemia		 PCCB c. 1218_1231del/insTAGAGCACAGGA
(p. G406fs) homozygous
PA5 Propionic
acidemia		 PCCB c.1002C>A (p.Tyr334*);
c.1219_1231del/insAGAGCACAGGA
(p.Pro407Argfs*6)
MMA1 Methylmalonic
acidemia		 MMUT c.29dupT ( p.L11Tx38);
c.1658delT (p.V553Gfsx17)
MMA2 Methylmalonic
acidemia		 MMUT c.406G>T (p.Val136Phe) homozygous
MMA3 Methylmalonic
acidemia		 MMUT c.2150G>T (p.Gly717Val); c.753+1G>A
(Splice donor)