Table 1.
iSCORE-PD cell line collection summary (targeted genes, mutations generated, genetic inheritance, editing approach, number of cell lines and their genotype)
CELLS IN COLLECTION | |||||
---|---|---|---|---|---|
MUTATION | INHERITANCE | EDITING | MONOALLELIC - HETEROZYGOUS | BIALLELIC - HOMOZYGOUS | |
(PARK1) SNCA | A53T | Autosomal dominant | Prime editing | 3 | - |
A30P | Autosomal dominant | Prime editing | 3 | 1 | |
(PARK2) PRKN | EX3DEL | Autosomal recessive | CRISPR/Cas9 (dual guide) | - | 3 |
(PARK6) PINK1 | Q129X | Autosomal recessive | CRISPR/Cas9 (HDR) | - | 3 |
(PARK7) DJ1 | EX1–5DEL | Autosomal recessive | CRISPR/Cas9 (dual guide) | 5 | 7 |
(PARK8) LRRK2 | G2019S | Autosomal dominant | Prime editing, TALEN and CRISPR/Cas9 (HDR) | 4 | 1 |
(PARK9) ATP13A2 | FS | Autosomal recessive | CRISPR/Cas9 (HDR) | - | 4 |
(PARK15) FBXO7 | R498X/FS | Autosomal recessive | CRISPR/Cas9 (HDR) | - | 2 |
(PARK19) DNAJC6 | c.801–2 A>G/FS | Autosomal recessive | CRISPR/Cas9 (HDR) | - | 2 |
(PARK20) SYNJ1 | R258Q/FS | Autosomal recessive | CRISPR/Cas9 (HDR) | - | 2 |
(PARK23) VPS13C | W395C/FS | Autosomal recessive | CRISPR/Cas9 (HDR) | - | 4 |
A444P/FS | Autosomal recessive | CRISPR/Cas9 (HDR) | 1 | 2 | |
GBA1 | IVS2+1/FS | Autosomal dominant1 | CRISPR/Cas9 (HDR) | 4 | 2 |
Wild type | - | - | Parental + 3 independent clones | ||
Edited wild type (EWT) | - | - | Prime editing, CRISPR/Cas9 (HDR) | Prime editing (6) + CRISPR/Cas9 (2) |
mixed inheritance.