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Cellosaurus SAHGMUi001-A (CVCL_A1WU)

[Text version]
Cell line name SAHGMUi001-A
Synonyms NS-iPSC
Accession CVCL_A1WU
Resource Identification Initiative To cite this cell line use: SAHGMUi001-A (RRID:CVCL_A1WU)
Comments From: The Second Affiliated Hospital of Guangzhou Medical University; Guangzhou; China.
Population: Chinese; Han.
Derived from site: In situ; Urine; UBERON=UBERON_0001088.
Sequence variations
  • Mutation; HGNC; 15464; SPINK5; Simple; p.Lys754Ter (c.2260A>T); ClinVar=VCV001379542; Zygosity=Heterozygous (PubMed=33556917).
  • Mutation; HGNC; 15464; SPINK5; Simple; p.Thr808Ile (c.2423C>T); ClinVar=VCV000848986; Zygosity=Heterozygous (PubMed=33556917).
Disease Netherton syndrome (NCIt: C84922)
Netherton syndrome (ORDO: Orphanet_634)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 43Y
Category Induced pluripotent stem cell
Publications

PubMed=33556917; DOI=10.1016/j.scr.2021.102213
Xu M., Wang L., Yin J.-W., Xiong J.-L., Guo Q., Yang W.-L.
Establishment of an induced pluripotent stem cell line (SAHGMUi001-A) from a patient with Netherton syndrome carrying SPINK5 mutation.
Stem Cell Res. 51:102213-102213(2021)

Cross-references
Cell line databases/resources hPSCreg; SAHGMUi001-A
Biological sample resources BioSamples; SAMEA7718792
Encyclopedic resources Wikidata; Q105510956
Entry history
Entry creation12-Jan-2021
Last entry update29-Jun-2023
Version number5