Cellosaurus logo
expasy logo

Cellosaurus FDHPIi001-A (CVCL_C6PZ)

[Text][XML][JSON]
Cell line name FDHPIi001-A
Synonyms FDHPIi001-WDR45-344
Accession CVCL_C6PZ
Resource Identification Initiative To cite this cell line use: FDHPIi001-A (RRID:CVCL_C6PZ)
Comments Population: Asian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:28912; WDR45; Simple; c.344+5G>T; Zygosity=Heterozygous (PubMed=36502619).
Disease Neurodegeneration with brain iron accumulation 5 (NCIt: C175210)
Beta-propeller protein-associated neurodegeneration (ORDO: Orphanet_329284)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 9Y
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=36502619

Markers:
AmelogeninX
CSF1PO10
D1S165615,17
D2S44111,12
D2S133823
D3S135814,15
D5S81811,13
D6S104313,20
D7S82011,12
D8S117913,15
D12S39117,18
D13S3178,11
D16S5399,12
D18S5114
D19S43313
D21S1131,32.2
FGA21,26
Penta D9,11
Penta E17
TH017,9
TPOX8,11
vWA18

Run an STR similarity search on this cell line
Publications

PubMed=36502619; DOI=10.1016/j.scr.2022.102992
Jing-Jing Xiang, Na-Na Huang, Qian-Qian Ouyang, Yuan Yi, Yang Ding, Yu An;
Generation of an induced pluripotent stem cell line FDHPIi001-A derived from a female patient with WDR45-related neurodegeneration disease carrying non-canonical splice site c.344 + 5G > T.
Stem Cell Res. 66:102992-102992(2023)

Cross-references
Cell line databases/resources hPSCreg; FDHPIi001-A
Biological sample resources BioSamples; SAMEA111491449
Encyclopedic resources Wikidata; Q117704334
Entry history
Entry creation21-Mar-2023
Last entry update19-Dec-2024
Version number3