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Cellosaurus SDQLCHi032-A (CVCL_A4XP)

[Text version]
Cell line name SDQLCHi032-A
Accession CVCL_A4XP
Resource Identification Initiative To cite this cell line use: SDQLCHi032-A (RRID:CVCL_A4XP)
Comments From: Qilu Children's Hospital of Shandong University; Jinan; China.
Population: Chinese; Han.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 5154; HPGD; Simple; p.Leu104Alafs*3 (c.308_309CT[1]) (c.310_311delCT); ClinVar=VCV000156027; Zygosity=Homozygous (PubMed=33550138).
Disease Primary hypertrophic osteoarthropathy, autosomal recessive type 1 (NCIt: C179057)
Pachydermoperiostosis (ORDO: Orphanet_2796)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 2Y7M
Category Induced pluripotent stem cell
Publications

PubMed=33550138; DOI=10.1016/j.scr.2021.102217
Li Y., Dong R., Wang G.-Y., Zhang H.-Y., Yang X.-M., Li Z.-L., Guan J.-Y., Gai Z.-T., Liu Y.
Establishment of a novel human iPSC line (SDQLCHi032-A) derived from a patient with primary hypertrophic osteoarthropathy caused by HPGD homozygous mutation.
Stem Cell Res. 52:102217-102217(2021)

Cross-references
Cell line databases/resources hPSCreg; SDQLCHi032-A
Encyclopedic resources Wikidata; Q107116887
Entry history
Entry creation20-May-2021
Last entry update29-Jun-2023
Version number4