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Cellosaurus SDQLCHi066-A (CVCL_D4ZP)

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Cell line name SDQLCHi066-A
Accession CVCL_D4ZP
Resource Identification Initiative To cite this cell line use: SDQLCHi066-A (RRID:CVCL_D4ZP)
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; HGNC:11782; TH; Simple; p.Gly247Ser (c.739G>A) (p.Gly216Ser, c.646G>A); ClinVar=VCV000948892; Zygosity=Heterozygous (PubMed=38492469).
  • Mutation; HGNC; HGNC:11782; TH; Simple; p.Asp491His (c.1471G>C); Zygosity=Heterozygous (PubMed=38492469).
Disease Tyrosine hydroxylase deficiency (NCIt: C157158)
Autosomal recessive dopa-responsive dystonia (ORDO: Orphanet_101150)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 4M
Category Induced pluripotent stem cell
Publications

PubMed=38492469; DOI=10.1016/j.scr.2024.103392
Xue Zhang, Zi-Long Li, Yi Liu, Hong-Mei Xin, Zhong-Tao Gai;
Establishment of a non-integrated iPSC (SDQLCHi066-A) line derived from Segawa syndrome patients harboring heterozygous mutations in the TH gene (p.G247S and p.D491H).
Stem Cell Res. 77:103392-103392(2024)

Cross-references
Cell line databases/resources hPSCreg; SDQLCHi066-A
Biological sample resources BioSamples; SAMEA115174533
Encyclopedic resources Wikidata; Q127384269
Entry history
Entry creation02-May-2024
Last entry update19-Dec-2024
Version number3