ID   HIHCNi003-A
AC   CVCL_VL40
SY   iPSC-ALSP
DR   hPSCreg; HIHCNi003-A
DR   Wikidata; Q94208301
RX   PubMed=29980109;
CC   From: Hertie Institute for Clinical Brain Research and German Center for Neurodegenerative Diseases, University of Tubingen; Tubingen; Germany.
CC   Population: Caucasian; German.
CC   Sequence variation: Mutation; HGNC; 2433; CSF1R; Simple; p.Val838Leu (c.2512G>C); ClinVar=VCV000162121; Zygosity=Heterozygous (PubMed=29980109).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C153289; Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
DI   ORDO; Orphanet_313808; Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   55Y
CA   Induced pluripotent stem cell
DT   Created: 07-09-18; Last updated: 29-06-23; Version: 9
//
RX   PubMed=29980109; DOI=10.1016/j.scr.2018.06.011;
RA   Hayer S.N., Schelling Y., Hoeflinger P., Hauser S., Schols L.;
RT   "Generation of an induced pluripotent stem cell line from a patient
RT   with adult-onset leukoencephalopathy with axonal spheroids and
RT   pigmented glia (ALSP): HIHCNi003-A.";
RL   Stem Cell Res. 30:206-209(2018).
//