ID   HIMRi007-A
AC   CVCL_D6P2
SY   GAA c.-32-13T>G, c.1716C>G hiPSC
DR   BioSamples; SAMEA114760681
DR   hPSCreg; HIMRi007-A
RX   PubMed=38896971;
CC   From: Heimer Institute for Muscle Research; Bochum; Germany.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:4065; GAA; Simple; c.-32-13T>G (IVS1-13T>G); ClinVar=VCV000004027; Zygosity=Heterozygous (PubMed=38896971).
CC   Sequence variation: Mutation; HGNC; HGNC:4065; GAA; Simple; p.His572Gln (c.1716C>G); ClinVar=VCV000929167; Zygosity=Heterozygous (PubMed=38896971).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C84734; Glycogen storage disease type II
DI   ORDO; Orphanet_365; Glycogen storage disease due to acid maltase deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   22Y
CA   Induced pluripotent stem cell
DT   Created: 10-09-24; Last updated: 19-12-24; Version: 2
//
RX   PubMed=38896971; DOI=10.1016/j.scr.2024.103459;
RA   Volke L., Daya N.M., Doring K., Rohm M., Athamneh M.J., Zaehres H.,
RA   Roos A., Guttsches A.-K., Mavrommatis L., Vorgerd M.;
RT   "Generation of two induced pluripotent stem cell lines (HIMRi006-A and
RT   HIMRi007-A) from Pompe patients with infantile and late disease
RT   onset.";
RL   Stem Cell Res. 79:103459-103459(2024).
//