ID   JTUi007-A
AC   CVCL_B0UQ
DR   BioSamples; SAMEA9697106
DR   hPSCreg; JTUi007-A
DR   Wikidata; Q108820571
RX   PubMed=34837774;
CC   From: Sixth People's Hospital, Shanghai Jiao Tong University; Shanghai; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 2433; CSF1R; Simple; p.Ile794Thr (c.2381T>C); ClinVar=VCV000029813; Zygosity=Heterozygous (PubMed=34837774).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
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   Female
AG   46Y
CA   Induced pluripotent stem cell
DT   Created: 23-09-21; Last updated: 29-06-23; Version: 4
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RX   PubMed=34837774; DOI=10.1016/j.scr.2021.102593;
RA   Wu J.-Y., Tian W.-T., Zhan F.-X., Luan X.-H., Cao L.;
RT   "Generation of an human induced pluripotent stem cell JTUi007-A from a
RT   patient with CSF1R-related leukoencephalopathy carrying heterozygous
RT   p.Ile794Thr mutation in CSF1R gene.";
RL   Stem Cell Res. 57:102593-102593(2021).
//