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Cellosaurus BGUi011-A (CVCL_A4YK)

[Text version]

Cell line name BGUi011-A
Synonyms BGU01iGRIN2D
Accession CVCL_A4YK
Resource Identification Initiative To cite this cell line use: BGUi011-A (RRID:CVCL_A4YK)
Comments From: Ben Gurion University of the Negev; Beer Sheva; Israel.
Population: Jewish; Ashkenazi.
Derived from sampling site: Skin; dermis. Cell type=Fibroblast.
Sequence variations
  • Mutation; HGNC; 4588; GRIN2D; Simple; p.Val667Ile (c.1999G>A); ClinVar=VCV000267211; Zygosity=Heterozygous (PubMed=33482465).
Disease Developmental and epileptic encephalopathy 46 (NCIt: C177545)
Non-specific early-onset epileptic encephalopathy (ORDO: Orphanet_442835)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 1Y8M
Category Induced pluripotent stem cell
Publications

PubMed=33482465; DOI=10.1016/j.scr.2021.102178
Rabinski T., Sagiv S.T., Hausman-Kedem M., Fattal-Valevski A., Rubinstein M., Avraham K.B., Vatine G.D.
Reprogramming of two induced pluripotent stem cell lines from a heterozygous GRIN2D developmental and epileptic encephalopathy (DEE) patient (BGUi011-A) and from a healthy family relative (BGUi012-A).
Stem Cell Res. 51:102178-102178(2021)

Cross-references
Cell line databases/resources hPSCreg; BGUi011-A
Biological sample resources BioSamples; SAMEA8073002
Encyclopedic resources Wikidata; Q107113458
Entry history
Entry creation20-May-2021
Last entry update17-Mar-2022
Version number3