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Cellosaurus SPPHIi001-A (CVCL_A4CV)

[Text version]
Cell line name SPPHIi001-A
Synonyms SPPH-1; KXD-0
Accession CVCL_A4CV
Resource Identification Initiative To cite this cell line use: SPPHIi001-A (RRID:CVCL_A4CV)
Comments From: Sichuan Academy of Medical Science & Sichuan Provincial People's Hospital; Chengdu; China.
Population: Chinese; Han.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 4851; HTT; Repeat_expansion; p.Gln18[49] (c.52CAG(49)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous (PubMed=33429129).
Disease Huntington's disease (NCIt: C82342)
Huntington disease (ORDO: Orphanet_399)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 44Y
Category Induced pluripotent stem cell
Publications

PubMed=33429129; DOI=10.1016/j.scr.2020.102149
Li B., Ye F., Chen L., Yang X.-Y., Zhang J., Luo Y., Xu J., Luo Y.-J., Wang S.
Generation of two induced pluripotent stem cell lines SPPHi001-A and SPPHi002-A from a Huntington's disease family of Southwestern China.
Stem Cell Res. 50:102149-102149(2021)

Cross-references
Cell line databases/resources hPSCreg; SPPHIi001-A
Encyclopedic resources Wikidata; Q105511120
Entry history
Entry creation12-Jan-2021
Last entry update29-Jun-2023
Version number4