Cellosaurus cell line SDQLCHi067-A (CVCL

Cross-references
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; 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 Chun-Lai Gao, Xiao-Meng Yang, Ya-Nan Yang, Ning Liu, Yue Li, Yi Liu, Zhong-Tao Gai; 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)
Cell line databases/resources	hPSCreg; SDQLCHi067-A
Biological sample resources	BioSamples; SAMEA115078188
Encyclopedic resources	Wikidata; Q127384271
Entry history
Entry creation	02-May-2024
Last entry update	19-Dec-2024
Version number	3