ID   WFS2_1
AC   CVCL_A5DN
DR   Wikidata; Q107117440
RX   PubMed=29239282;
WW   Provider; BioKryo; -; https://biokryo.airliquide.com/sites/biokryo/files/2022-07/human-fibroblasts-catalogue-isenet.pdf
CC   Population: Caucasian; Italian.
CC   Sequence variation: Mutation; HGNC; HGNC:24212; CISD2; Simple; c.103+1G>A; ClinVar=VCV000638297; Zygosity=Homozygous; Note=Splice donor mutation (PubMed=29239282).
CC   Derived from site: In situ; Arm, skin, dermis; UBERON=UBERON_0002427+UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C35133; Wolfram syndrome
DI   ORDO; Orphanet_3463; Wolfram syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   19Y
CA   Finite cell line
DT   Created: 20-05-21; Last updated: 10-04-25; Version: 7
//
RX   PubMed=29239282; DOI=10.1089/scd.2017.0158;
RA   La Spada A., Ntai A., Genovese S., Rondinelli M., De Blasio P.,
RA   Biunno I.;
RT   "Generation of human-induced pluripotent stem cells from Wolfram
RT   syndrome type 2 patients bearing the c.103 + 1G>A CISD2 mutation for
RT   disease modeling.";
RL   Stem Cells Dev. 27:287-295(2018).
//