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Table 1 Skin fibroblast donor information

From: Induced pluripotent stem cell models of Zellweger spectrum disorder show impaired peroxisome assembly and cell type-specific lipid abnormalities

Current ID

Prior ID

Description

PEX gene mutations

PEX gene notes

Control1

AG05838

Healthy female, 36 years

Presumed wild type

None

Control2

AG09599

Healthy female, 30 years

Presumed wild type

None

Control3

AG13153

Healthy male, 30 years

Presumed wild type

None

PBD_PEX1fs1

PBD721

PBD-ZSD patient

PEX1 c.2097_2098insT p.I700fs; c.2916delA p.G973fs

Two null alleles

PBD_PEX1fs2

PBD702

PBD-ZSD patient

PEX1 c.2097_2098insT p.I700fs; 2916delA p.G973fs

Two null alleles

PBD_PEX1ms1

PBD615

PBD-ZSD patient

Homozygous PEX1 c.2528G>A p.G843D

Hypomorphic allelesa

PBD_PEX1ms2

PBD643

PBD-ZSD patient

Homozygous PEX1 c.2528G>A p.G843D

Hypomorphic allelesa

PBD_PEX10

PBD687

PBD-ZSD patient

PEX10 c.337delC p. L113fs; c.890T>C p.L297P

Null allele and hypomorphic alleleb

PBD_PEX12c

PBD673

PBD-ZSD patient

Homozygous PEX12 c.959C>T p.S320F

Hypomorphic allelesc

PBD_PEX26

PBD604

PBD-ZSD patient

Homozygous PEX26 c.292 C>T p.R98W

Hypomorphic allelesd

  1. Prior ID number for control cell lines obtained from Coriell Cell Repositories and PBD-ZSD patient cells obtained from the Kennedy Krieger Institute are provided
  2. aSkin fibroblasts derived from multiple patients with this genotype have a temperature-sensitive peroxisome assembly defect [52]
  3. bSkin fibroblasts derived from this patient have relative sVLCFA levels in the normal range under standard growth conditions [53]. PEX1 c.880A>G p.T294A allele of unknown significance is also present
  4. cSkin fibroblasts derived from multiple patients with this genotype have relative sVLCFA levels in the normal range under standard growth conditions [54]
  5. dSkin fibroblasts derived from multiple patients with this genotype have a temperature-sensitive peroxisome assembly defect [55]
  6. PBD-ZSD Zellweger spectrum disorder, sVLCFA saturated very long chain fatty acid