ID   DHMCi005-A
AC   CVCL_WG65
SY   SCYL1_1B_IPS
DR   hPSCreg; DHMCi005-A
DR   Wikidata; Q93527342
RX   PubMed=30959346;
CC   From: Dietmar Hopp Metabolic Center, Center for Child and Adolescent Medicine Heidelberg; Heidelberg; Germany.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 14372; SCYL1; Simple; p.Gln628Ter (c.1882C>T); ClinVar=VCV000446290; Zygosity=Homozygous (PubMed=30959346).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C159655; CALFAN syndrome
DI   ORDO; Orphanet_466794; Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   2Y
CA   Induced pluripotent stem cell
DT   Created: 24-05-19; Last updated: 29-06-23; Version: 8
//
RX   PubMed=30959346; DOI=10.1016/j.scr.2019.101428;
RA   Lenz D., Staufner C., Wachter S., Hagedorn M., Ebersold J.,
RA   Gohring G., Kolker S., Hoffmann G.F., Jung-Klawitter S.;
RT   "Generation of an induced pluripotent stem cell (iPSC) line,
RT   DHMCi005-A, from a patient with CALFAN syndrome due to mutations in
RT   SCYL1.";
RL   Stem Cell Res. 37:101428-101428(2019).
//