Cellosaurus cell line IMEDEAi004-A (CVCL

Cross-references
Cell line name	IMEDEAi004-A
Synonyms	iPS GM00879CL1
Accession	CVCL_UD89
Resource Identification Initiative	To cite this cell line use: IMEDEAi004-A (RRID:CVCL_UD89)
Comments	From: Instituto Mediterraneo de Estudios Avanzados; Esporles; Spain. Population: Caucasian. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:10818; SGSH; Simple; p.Arg245His (c.734G>A); ClinVar=VCV000005107; Zygosity=Heterozygous (PubMed=30269021). Mutation; HGNC; HGNC:10818; SGSH; Simple; p.Glu447Lys (c.1339G>A); ClinVar=VCV000005114; Zygosity=Heterozygous (PubMed=30269021).
Disease	Mucopolysaccharidosis type IIIA (NCIt: C84897) Sanfilippo syndrome type A (ORDO: Orphanet_79269)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy	Parent: CVCL_0L95 (GM00879)
Sex of cell	Female
Age at sampling	3Y
Category	Induced pluripotent stem cell
Publications	PubMed=30269021; DOI=10.1016/j.scr.2018.09.009 Sara Vallejo, Aarne Fleischer, Jose Maria Martin, Almudena Sanchez, Esther Palomino, Daniel Bachiller; Generation of two induced pluripotent stem cells lines from mucopolysaccharydosis IIIA patient: IMEDEAi004-A and IMEDEAi004-B. Stem Cell Res. 32:110-114(2018)
Cell line databases/resources	hPSCreg; IMEDEAi004-A
Encyclopedic resources	Wikidata; Q94316116
Entry history
Entry creation	13-Nov-2018
Last entry update	19-Dec-2024
Version number	10