Cellosaurus cell line AOUMEYi001-A (CVCL

Cellosaurus AOUMEYi001-A (CVCL_D6IB)

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; HGNC:23161; ALG8; Simple; p.Leu149Arg (c.445T>G); ClinVar=VCV001310520; Zygosity=Heterozygous (PubMed=38323760). Mutation; HGNC; 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 Rodolfo Tonin, Federica Feo, Silvia Falliano, Lorenzo Ferri, Laura Giunti, Martino Calamai, Elena Procopio, Francesco Mari, Valerio Conti, Ilaria Fanelli, Franco Bambi ...Show all 13 authors... , Renzo Guerrini, Amelia Morrone; Show fewer authors 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	19-Dec-2024
Version number	3