Cellosaurus cell line SHCDNi002-A (CVCL

Cellosaurus SHCDNi002-A (CVCL_YZ99)

Cross-references
Cell line name	SHCDNi002-A
Synonyms	SHCDN002
Accession	CVCL_YZ99
Resource Identification Initiative	To cite this cell line use: SHCDNi002-A (RRID:CVCL_YZ99)
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:11957; MED12; Simple; c.1249-1G>C; ClinVar=VCV001210232; Zygosity=Heterozygous; Note=Splice acceptor mutation (PubMed=32505899).
Disease	FG syndrome type 1 (NCIt: C171270) FG syndrome type 1 (ORDO: Orphanet_93932)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	1Y
Category	Induced pluripotent stem cell
Publications	PubMed=32505899; DOI=10.1016/j.scr.2020.101838 Yi-Lin Wang, Fang Yuan, An-Qi Wang, Chao Wang, Long-Long Lin, Si-Mei Wang, Chun-Mei Wang, Xiao-Na Luo, Quan-Mei Xu, Rong-Rong Yin, Hong-Yi Cheng ...Show all 17 authors... , Yuan-Feng Zhang, Xiao-Min Sun, Jia-Ming Xi, Jing-Bin Yan, Fan-Yi Zeng, Yu-Cai Chen; Show fewer authors Induced pluripotent stem cells (SHCDNi002-A cells) isolated from the peripheral blood mononuclear cells of a 1-year-old Chinese girl with mediator complex subunit 12-related syndrome. Stem Cell Res. 46:101838-101838(2020)
Cell line databases/resources	hPSCreg; SHCDNi002-A SKIP; SKIP005751
Biological sample resources	BioSamples; SAMEA6878082
Encyclopedic resources	Wikidata; Q98132502
Entry history
Entry creation	02-Jul-2020
Last entry update	19-Dec-2024
Version number	8