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Cellosaurus FDHPIi001-A (CVCL_C6PZ)

[Text version]
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

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Publications

PubMed=36502619; DOI=10.1016/j.scr.2022.102992
Xiang J.-J., Huang N.-N., Ouyang Q.-Q., Yi Y., Ding Y., An Y.
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