Organism: Homo sapiens, human

Cell Type: Fibroblasts

Source: Epidermis/arm

Gender: Female

Disease: Wolfram Syndrome 2

Mutation: heterozygous CISD2

Affected: No

Family member: 4

Relation to proband: Mother

Datasheet: available upon request


  1. La Spada A, Ntai A, Genovese S, Rondinelli M, De Blasio P, Biunno I. Generation of human induced pluripotent stem cells from Wolfram Syndrome type 2 patients bearing the c.103+1G>A CISD2 mutation for disease modeling. Stem Cells Dev. 2017 Dec.
  2. Rondinelli M, Novara F, Calcaterra V, Zuffardi O, Genovese S. Wolfram syndrome 2: a novel CISD2 mutation identified in Italian siblings. Acta Diabetol. 2014 Nov. DOI 10.1007/s00592-014-0648-1.