ID   AOUMEYi001-A
AC   CVCL_D6IB
DR   hPSCreg; AOUMEYi001-A
DR   Wikidata; Q127380234
RX   PubMed=38323760;
CC   From: Meyer Children's Hospital IRCCS; Firenze; Italy.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 23161; ALG8; Simple; p.Leu149Arg (c.445T>G); ClinVar=VCV001310520; Zygosity=Heterozygous (PubMed=38323760).
CC   Sequence variation: Mutation; HGNC; 23161; ALG8; Simple; p.Thr327Arg (c.980C>G); ClinVar=VCV001032157; Zygosity=Heterozygous (PubMed=38323760).
CC   Derived from site: In situ; Forearm, skin, dermis; UBERON=UBERON_0003403+UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C206097; Congenital disorder of glycosylation type Ih
DI   ORDO; Orphanet_79325; ALG8-CDG
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   15Y
CA   Induced pluripotent stem cell
DT   Created: 02-05-24; Last updated: 10-09-24; Version: 2
//
RX   PubMed=38323760; DOI=10.1016/j.scr.2023.103235;
RA   Tonin R., Feo F., Falliano S., Ferri L., Giunti L., Calamai M.,
RA   Procopio E., Mari F., Conti V., Fanelli I., Bambi F., Guerrini R.,
RA   Morrone A.;
RT   "Generation of human induced pluripotent stem cell line (AOUMEYi001-A)
RT   from a patient affected by congenital disorders of glycosylation
RT   (ALG8-CDG) using self-replicating RNA vector.";
RL   Stem Cell Res. 73:103235-103235(2023).
//