Cellosaurus cell line SHCDNi001-A (CVCL

Cellosaurus SHCDNi001-A (CVCL_YT40)

Cross-references
Cell line name	SHCDNi001-A
Synonyms	SHCDN001
Accession	CVCL_YT40
Resource Identification Initiative	To cite this cell line use: SHCDNi001-A (RRID:CVCL_YT40)
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:13601; FBXL4; Simple; p.Leu332Thrfs*3 (c.993dupA); Zygosity=Homozygous (PubMed=32416579).
Disease	Mitochondrial DNA depletion syndrome 13 (NCIt: C172095) Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies (ORDO: Orphanet_369897)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	1Y
Category	Induced pluripotent stem cell
Publications	PubMed=32416579; DOI=10.1016/j.scr.2020.101832 Fang Yuan, Chun-Mei Wang, Jia-Ming Xi, Si-Mei Wang, Long-Long Lin, Yi-Lin Wang, An-Qi Wang, Chao Wang, Xiao-Na Luo, Quan-Mei Xu, Rong-Rong Yin ...Show all 15 authors... , Hong-Yi Cheng, Yuan-Feng Zhang, Xiao-Min Sun, Yu-Cai Chen; Show fewer authors Generation of an induced pluripotent stem cell line SHCDNi001-A from a one-year-old Chinese girl with mitochondrial DNA depletion syndrome 13. Stem Cell Res. 45:101832-101832(2020)
Cell line databases/resources	hPSCreg; SHCDNi001-A SKIP; SKIP005801
Biological sample resources	BioSamples; SAMEA6880588
Encyclopedic resources	Wikidata; Q98132501
Entry history
Entry creation	12-Mar-2020
Last entry update	19-Dec-2024
Version number	8