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Table 1 Patients and controls whose skin fibroblasts were studied

From: Directly converted patient-specific induced neurons mirror the neuropathology of FUS with disrupted nuclear localization in amyotrophic lateral sclerosis

Characteristic ID MND Sex Exon FUS genotype Age at biopsy, yr Age of onset, yr Familial history Site of onset ALSFRS-R delta-FS Survival, mo Autopsy
ALS-FUS HS374 777 M 15 Q519Ea 34 34 Yes Limb 46 0.10 >61 c N/A
  HS131 402 F 14 G504Wfs*12b 34 31 No Limb 36 0.92 46 Yes
  HS197 502 F 14 R495*b 31 27 No Bulbar 23 1.92 54 N/A
Sporadic ALS HS250 551 M N/A N/A N/A 57 No N/A 39 0.82 68 Yes
CTL 1 N/A N/A F N/A N/A 35 N/A N/A N/A N/A N/A N/A N/A
CTL 2 N/A N/A F N/A N/A 40 N/A N/A N/A N/A N/A N/A N/A
CTL 3 N/A N/A M N/A N/A 45 N/A N/A N/A N/A N/A N/A N/A
CTL 4 N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A Purchased
  1. FUS, fused in sarcoma, ALSFRS-R a revised ALS functional rating scale, ALS amyotrophic lateral sclerosis, F female, N/A not applicable, M male, CTL control
  2. ALSFRS-R and delta FS were evaluated at the first visit
  3. aReported previously (Kim H-J et al., 2015). bReported previously (Kwon MJ et al., 2012; Kim YE et al., 2014).
  4. c>61 means that more than 61 months have passed since symptom onset and the patient is still alive on the last follow-up