Cellosaurus cell line DHMCi005-A (CVCL

Cross-references
Cell line name	DHMCi005-A
Synonyms	SCYL1_1B_IPS
Accession	CVCL_WG65
Resource Identification Initiative	To cite this cell line use: DHMCi005-A (RRID:CVCL_WG65)
Comments	From: Dietmar Hopp Metabolic Center, Center for Child and Adolescent Medicine Heidelberg; Heidelberg; Germany. Population: Caucasian. Cell type: Fibroblast; CL=CL_0000057.
Sequence variations	Mutation; HGNC; HGNC:14372; SCYL1; Simple; p.Gln628Ter (c.1882C>T); ClinVar=VCV000446290; Zygosity=Homozygous (PubMed=30959346).
Disease	CALFAN syndrome (NCIt: C159655) Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome (ORDO: Orphanet_466794)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	2Y
Category	Induced pluripotent stem cell
Publications	PubMed=30959346; DOI=10.1016/j.scr.2019.101428 Dominic Lenz, Christian Staufner, Selina Wachter, Maike Hagedorn, Juliane Ebersold, Gudrun Gohring, Stefan Kolker, Georg F. Hoffmann, Sabine Jung-Klawitter; Generation of an induced pluripotent stem cell (iPSC) line, DHMCi005-A, from a patient with CALFAN syndrome due to mutations in SCYL1. Stem Cell Res. 37:101428-101428(2019)
Cell line databases/resources	hPSCreg; DHMCi005-A
Encyclopedic resources	Wikidata; Q93527342
Entry history
Entry creation	24-May-2019
Last entry update	19-Dec-2024
Version number	9