Cellosaurus logo
expasy logo

Cellosaurus SDQLCHi067-A (CVCL_D4ZQ)

[Text version]
Cell line name SDQLCHi067-A
Accession CVCL_D4ZQ
Resource Identification Initiative To cite this cell line use: SDQLCHi067-A (RRID:CVCL_D4ZQ)
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; 2714; DCX; Simple; p.Lys190Glu (c.568A>G); ClinVar=VCV000096552; Zygosity=Heterozygous (PubMed=38402847).
Disease X-linked lissencephaly-1 (NCIt: C205645)
Lissencephaly type 1 due to doublecortin gene mutation (ORDO: Orphanet_2148)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 4Y1M
Category Induced pluripotent stem cell
Publications

PubMed=38402847; DOI=10.1016/j.scr.2024.103356
Gao C.-L., Yang X.-M., Yang Y.-N., Liu N., Li Y., Liu Y., Gai Z.-T.
Generation of an induced pluripotent stem cell line (SDQLCHi067-A) from a patient with subcortical band heterotopia harboring a heterozygous mutation in DCX gene.
Stem Cell Res. 76:103356-103356(2024)

Cross-references
Cell line databases/resources hPSCreg; SDQLCHi067-A
Biological sample resources BioSamples; SAMEA115078188
Encyclopedic resources Wikidata; Q127384271
Entry history
Entry creation02-May-2024
Last entry update10-Sep-2024
Version number2