WFS2_2

Description

Organism: Homo sapiens, human

Cell Type: Fibroblasts

Source:  Epidermis/arm

Gender: Female

Age: 22 year-old (at sampling)

Disease: Wolfram Syndrome 2

Mutation: homozygous CISD2

Affected: Yes

Family member: 2

Relation to proband: Sister

Datasheet: available upon request

References: 

  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.