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Cellosaurus SHCDNi006-A (CVCL_B5RS)

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Cell line name SHCDNi006-A
Synonyms SHCDN006
Accession CVCL_B5RS
Resource Identification Initiative To cite this cell line use: SHCDNi006-A (RRID:CVCL_B5RS)
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:18865; KCNT1; Simple; p.Ala934Thr (c.2800G>A); ClinVar=VCV000039594; Zygosity=Heterozygous; Note=De novo mutation (PubMed=35537242).
Disease Developmental and epileptic encephalopathy 14 (NCIt: C188141)
Non-specific early-onset epileptic encephalopathy (ORDO: Orphanet_442835)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 5M
Category Induced pluripotent stem cell
Publications

PubMed=35537242; DOI=10.1016/j.scr.2022.102798
Xiao-Na Luo, Yi-Lin Wang, Fang Yuan, Long-Long Lin, An-Qi Wang, Chao Wang, Miao Guo, Si-Mei Wang, Chun-Mei Wang, Quan-Mei Xu, Rong-Rong Yin ...Show all 18 authors... , Hong-Yi Cheng, Yuan-Feng Zhang, Zeng-Ping Liu, Wu-Hen Xu, Jing-Bin Yan, Fan-Yi Zeng, Yu-Cai Chen; Show fewer authors
Induced pluripotent stem cells (SHCDNi006-A cells) isolated from the peripheral blood mononuclear cells of a five-month-old Chinese girl with the heterozygous missense mutation (c.2800 G>A) in the KCNT1 gene.
Stem Cell Res. 62:102798-102798(2022)

Cross-references
Cell line databases/resources hPSCreg; SHCDNi006-A
Biological sample resources BioSamples; SAMEA14207087
Encyclopedic resources Wikidata; Q112041713
Entry history
Entry creation17-Mar-2022
Last entry update19-Dec-2024
Version number5