Cellosaurus cell line SDQLCHi037-A (CVCL

Cross-references
Cell line name	SDQLCHi037-A
Accession	CVCL_A4XH
Resource Identification Initiative	To cite this cell line use: SDQLCHi037-A (RRID:CVCL_A4XH)
Comments	From: Qilu Children's Hospital of Shandong University; Jinan; China. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:6188; JAG1; Simple; p.Gln539Ter (c.1615C>T); ClinVar=VCV000488807; Zygosity=Heterozygous (PubMed=33465531).
Disease	Alagille syndrome (NCIt: C35139) Alagille syndrome (ORDO: Orphanet_52)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	3M
Category	Induced pluripotent stem cell
Publications	PubMed=33465531; DOI=10.1016/j.scr.2021.102162 Bin Wang, Lu Yang, Yue Li, Min Gao, Hai-Yan Zhang, Xiao-Meng Yang, Jing-Yun Guan, Yi Liu, Zhong-Tao Gai; Establishment of a human induced pluripotent stem cell line (SDQLCHi037-A) from a patient with Alagille syndrome carrying heterozygous mutation in JAG1 gene. Stem Cell Res. 51:102162-102162(2021)
Cell line databases/resources	hPSCreg; SDQLCHi037-A
Encyclopedic resources	Wikidata; Q107116891
Entry history
Entry creation	20-May-2021
Last entry update	19-Dec-2024
Version number	5