Cellosaurus cell line SDQLCHi044-A (CVCL

Cross-references
Cell line name	SDQLCHi044-A
Accession	CVCL_C1WD
Resource Identification Initiative	To cite this cell line use: SDQLCHi044-A (RRID:CVCL_C1WD)
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:11497; SYNGAP1; Simple; p.Arg687Ter (c.2059C>T); ClinVar=VCV000411584; Zygosity=Heterozygous (PubMed=36183676).
Disease	Mental retardation, autosomal dominant 5 (NCIt: C178414) Autosomal dominant non-syndromic intellectual disability (ORDO: Orphanet_178469)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	2Y6M
Category	Induced pluripotent stem cell
Publications	PubMed=36183676; DOI=10.1016/j.scr.2022.102922 Yan-Xin Wang, Yu-Qiang Lv, Xiao-Meng Yang, Yue Li, Zi-Long Li, Zai-Fen Gao, Zhong-Tao Gai, Yi Liu; Generation of an induced pluripotent stem cell line (SDQLCHi044-A) from a patient with autosomal dominant mental retardation type 5 harboring heterozygous mutation in SYNGAP1 gene. Stem Cell Res. 64:102922-102922(2022)
Cell line databases/resources	hPSCreg; SDQLCHi044-A
Encyclopedic resources	Wikidata; Q114312982
Entry history
Entry creation	22-Sep-2022
Last entry update	19-Dec-2024
Version number	5