Cellosaurus cell line SHCDNi003-A (CVCL

Cross-references
Cell line name	SHCDNi003-A
Synonyms	SHCDN003
Accession	CVCL_ZL96
Resource Identification Initiative	To cite this cell line use: SHCDNi003-A (RRID:CVCL_ZL96)
Comments	From: Shanghai Children's Hospital, Shanghai Jiao Tong University; Shanghai; China. Population: Chinese; Han. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:10923; SLC16A2; Simple; c.1026+1G>A; Zygosity=Hemizygous; Note=Splice donor mutation (PubMed=32603881).
Disease	Allan-Herndon-Dudley syndrome (NCIt: C118843) Allan-Herndon-Dudley syndrome (ORDO: Orphanet_59)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	1Y
Category	Induced pluripotent stem cell
Publications	PubMed=32603881; DOI=10.1016/j.scr.2020.101872 An-Qi Wang, Jia-Ming Xi, Fang Yuan, Yi-Lin Wang, Si-Mei Wang, Chun-Mei Wang, Chao Wang, Long-Long Lin, Xiao-Na Luo, Quan-Mei Xu, Rong-Rong Yin ...Show all 18 authors... , Hong-Yi Cheng, Yuan-Feng Zhang, Xiao-Min Sun, Jie Yang, Jing-Bin Yan, Fan-Yi Zeng, Yu-Cai Chen; Show fewer authors Generation of an induced pluripotent stem cell line (SHCDNi003-A) from a one-year-old Chinese Han infant with Allan-Herndon-Dudley syndrome. Stem Cell Res. 46:101872-101872(2020)
Cell line databases/resources	hPSCreg; SHCDNi003-A
Biological sample resources	BioSamples; SAMEA7044788
Encyclopedic resources	Wikidata; Q98132503
Entry history
Entry creation	02-Jul-2020
Last entry update	19-Dec-2024
Version number	7