Cellosaurus cell line BGUi011-A (CVCL

Cross-references
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 site: In situ; Skin, dermis; UBERON=UBERON_0002067. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; 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
Web pages	https://www.vatinelab.com/about-3
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)
Cell line databases/resources	hPSCreg; BGUi011-A
Biological sample resources	BioSamples; SAMEA8073002
Encyclopedic resources	Wikidata; Q107113458
Entry history
Entry creation	20-May-2021
Last entry update	19-Dec-2024
Version number	7