ID   FDHPIi001-A
AC   CVCL_C6PZ
SY   FDHPIi001-WDR45-344
DR   BioSamples; SAMEA111491449
DR   hPSCreg; FDHPIi001-A
DR   Wikidata; Q117704334
RX   PubMed=36502619;
CC   Population: Asian.
CC   Sequence variation: Mutation; HGNC; 28912; WDR45; Simple; c.344+5G>T; Zygosity=Heterozygous (PubMed=36502619).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
ST   Source(s): PubMed=36502619
ST   Amelogenin: X
ST   CSF1PO: 10
ST   D12S391: 17,18
ST   D13S317: 8,11
ST   D16S539: 9,12
ST   D18S51: 14
ST   D19S433: 13
ST   D1S1656: 15,17
ST   D21S11: 31,32.2
ST   D2S1338: 23
ST   D2S441: 11,12
ST   D3S1358: 14,15
ST   D5S818: 11,13
ST   D6S1043: 13,20
ST   D7S820: 11,12
ST   D8S1179: 13,15
ST   FGA: 21,26
ST   Penta D: 9,11
ST   Penta E: 17
ST   TH01: 7,9
ST   TPOX: 8,11
ST   vWA: 18
DI   NCIt; C175210; Neurodegeneration with brain iron accumulation 5
DI   ORDO; Orphanet_329284; Beta-propeller protein-associated neurodegeneration
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   9Y
CA   Induced pluripotent stem cell
DT   Created: 21-03-23; Last updated: 29-06-23; Version: 2
//
RX   PubMed=36502619; DOI=10.1016/j.scr.2022.102992;
RA   Xiang J.-J., Huang N.-N., Ouyang Q.-Q., Yi Y., Ding Y., An Y.;
RT   "Generation of an induced pluripotent stem cell line FDHPIi001-A
RT   derived from a female patient with WDR45-related neurodegeneration
RT   disease carrying non-canonical splice site c.344 + 5G > T.";
RL   Stem Cell Res. 66:102992-102992(2023).
//