Cellosaurus cell line SDQLCHi046-A (CVCL

Cross-references
Cell line name	SDQLCHi046-A
Accession	CVCL_C1WF
Resource Identification Initiative	To cite this cell line use: SDQLCHi046-A (RRID:CVCL_C1WF)
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:13315; HDAC8; Simple; p.Glu186Lys (c.556G>A); ClinVar=VCV000211142; Zygosity=Hemizygous (PubMed=36481505).
Disease	Cornelia de Lange syndrome (NCIt: C75016) Cornelia de Lange syndrome (ORDO: Orphanet_199)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	2D
Category	Induced pluripotent stem cell
Publications	PubMed=36481505; DOI=10.1016/j.scr.2022.102984 Zi-Long Li, Chen Liu, Hong-Mei Xin, Ya-Nan Yang, Yan-Xin Wang, Sha-Sha Niu, Chun-Lai Gao, Zhong-Tao Gai, Yi Liu; Establishment of a transgene-free iPS cell line (SDQLCHi046-A) from a young patient bearing a HDAC8 mutation and suffering from Cornelia de Lange syndrome. Stem Cell Res. 66:102984-102984(2023)
Cell line databases/resources	hPSCreg; SDQLCHi046-A
Encyclopedic resources	Wikidata; Q114312984
Entry history
Entry creation	22-Sep-2022
Last entry update	19-Dec-2024
Version number	5