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Cellosaurus GWCMCi006-A (CVCL_D0F4)

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Cell line name GWCMCi006-A
Synonyms GWCMCi-GRIN1
Accession CVCL_D0F4
Resource Identification Initiative To cite this cell line use: GWCMCi006-A (RRID:CVCL_D0F4)
Comments From: Guangzhou Women and Children's Medical Center; Guangzhou; China.
Population: Chinese.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:4584; GRIN1; Simple; p.Asp130Gly (c.389A>G); Zygosity=Heterozygous; Note=De novo mutation (PubMed=38452705).
Disease Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant (NCIt: C206518)
Autosomal dominant non-syndromic intellectual disability (ORDO: Orphanet_178469)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 10Y
Category Induced pluripotent stem cell
Publications

PubMed=38452705; DOI=10.1016/j.scr.2024.103371
Zhen Shi, Huan Liu, Fang-Mei Feng, Zhi-Fang Huang, Wen-Xiong Chen;
Generation of an induced pluripotent stem cell line GWCMCi006-A from a patient with autosomal dominant neurodevelopmental disorder with or without hyperkinetic movements and seizures harboring GRIN1 c.389A > G mutation.
Stem Cell Res. 76:103371-103371(2024)

Cross-references
Cell line databases/resources hPSCreg; GWCMCi006-A
Biological sample resources BioSamples; SAMEA114293122
Encyclopedic resources Wikidata; Q123031380
Entry history
Entry creation05-Oct-2023
Last entry update19-Dec-2024
Version number4