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Cellosaurus FDCHi007-A (CVCL_B5IK)

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Cell line name FDCHi007-A
Synonyms ips-104
Accession CVCL_B5IK
Resource Identification Initiative To cite this cell line use: FDCHi007-A (RRID:CVCL_B5IK)
Comments From: Children's Hospital of Fudan University; Shanghai; China.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:2972; DNM1; Simple; p.Ala182Asp (c.545C>A); ClinVar=VCV000421787; Zygosity=Heterozygous; Note=De novo mutation (PubMed=35184021).
Disease Developmental and epileptic encephalopathy 31 (NCIt: C185237)
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 3Y
Category Induced pluripotent stem cell
Publications

PubMed=35184021; DOI=10.1016/j.scr.2022.102709
Yan Xu, Xin-Hua Wang, Tian Qiu, Ji Wang, Yi Wang, Bing-Bing Wu, Yuan-Feng Zhou;
Generation of an induced pluripotent stem cell line (FDCHI007-A) derived from a patient with developmental and epileptic encephalopathy type 31 carrying heterozygous c.545C > A mutation in DNM1 gene.
Stem Cell Res. 60:102709-102709(2022)

Cross-references
Cell line databases/resources hPSCreg; FDCHi007-A
Biological sample resources BioSamples; SAMEA10886707
Encyclopedic resources Wikidata; Q110432803
Entry history
Entry creation16-Dec-2021
Last entry update19-Dec-2024
Version number6