Cellosaurus cell line SHCDNi004-A (CVCL

Cross-references
Cell line name	SHCDNi004-A
Synonyms	SHCDN004
Accession	CVCL_A1WV
Resource Identification Initiative	To cite this cell line use: SHCDNi004-A (RRID:CVCL_A1WV)
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:5996; IL1RAPL1; Simple; p.Leu349Serfs*7 (c.1043_1044dup); Zygosity=Hemizygous; Note=De novo mutation (PubMed=33774333).
Disease	Mental retardation, X-linked 21/34 (NCIt: C179707) X-linked non-syndromic intellectual disability (ORDO: Orphanet_777)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	10Y
Category	Induced pluripotent stem cell
Publications	PubMed=33774333; DOI=10.1016/j.scr.2021.102292 Fang Yuan, Si-Mei Wang, Yi-Lin Wang, An-Qi Wang, Chao Wang, Xiao-Na Luo, Quan-Mei Xu, Rong-Rong Yin, Hong-Yi Cheng, Chun-Mei Wang, Miao Guo ...Show all 18 authors... , Yuan-Feng Zhang, Jia-Ming Xi, Jie Yang, Xiao-Min Sun, Jing-Bin Yan, Fan-Yi Zeng, Yu-Cai Chen; Show fewer authors Generation and characterization of the induced pluripotent stem cell line SHCDNi004-A from a ten-year-old Chinese boy with X-linked mental retardation in IL1RAPL1 deficiency. Stem Cell Res. 53:102292-102292(2021)
Cell line databases/resources	hPSCreg; SHCDNi004-A
Encyclopedic resources	Wikidata; Q105511067
Entry history
Entry creation	12-Jan-2021
Last entry update	19-Dec-2024
Version number	6