Cellosaurus cell line AOUMEYi001-A (CVCL

Cross-references
Cell line name	AOUMEYi001-A
Accession	CVCL_D6IB
Resource Identification Initiative	To cite this cell line use: AOUMEYi001-A (RRID:CVCL_D6IB)
Comments	From: Meyer Children's Hospital IRCCS; Firenze; Italy. Population: Caucasian. Derived from site: In situ; Forearm, skin, dermis; UBERON=UBERON_0003403+UBERON_0002067. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; 23161; ALG8; Simple; p.Leu149Arg (c.445T>G); ClinVar=VCV001310520; Zygosity=Heterozygous (PubMed=38323760). Mutation; HGNC; 23161; ALG8; Simple; p.Thr327Arg (c.980C>G); ClinVar=VCV001032157; Zygosity=Heterozygous (PubMed=38323760).
Disease	Congenital disorder of glycosylation type Ih (NCIt: C206097) ALG8-CDG (ORDO: Orphanet_79325)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	15Y
Category	Induced pluripotent stem cell
Publications	PubMed=38323760; DOI=10.1016/j.scr.2023.103235 Tonin R., Feo F., Falliano S., Ferri L., Giunti L., Calamai M., Procopio E., Mari F., Conti V., Fanelli I., Bambi F., Guerrini R., Morrone A. Generation of human induced pluripotent stem cell line (AOUMEYi001-A) from a patient affected by congenital disorders of glycosylation (ALG8-CDG) using self-replicating RNA vector. Stem Cell Res. 73:103235-103235(2023)
Cell line databases/resources	hPSCreg; AOUMEYi001-A
Encyclopedic resources	Wikidata; Q127380234
Entry history
Entry creation	02-May-2024
Last entry update	10-Sep-2024
Version number	2