Cellosaurus cell line STJUDEi001-A (CVCL

Cross-references
Cell line name	STJUDEi001-A
Synonyms	AD2000MEMS00
Accession	CVCL_YT44
Resource Identification Initiative	To cite this cell line use: STJUDEi001-A (RRID:CVCL_YT44)
Comments	From: St. Jude Children's Research Hospital; Memphis; USA. Population: African American. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:7758; NEU1; Simple; p.Leu215Pro (c.644T>C); ClinVar=VCV000393239; Zygosity=Heterozygous (PubMed=32485644). Mutation; HGNC; HGNC:7758; NEU1; Simple; p.Val217Met (c.649G>A); ClinVar=VCV000002449; Zygosity=Heterozygous (PubMed=32485644).
Disease	Neuraminidase deficiency (NCIt: C125596) Sialidosis type 1 (ORDO: Orphanet_812)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	Children
Category	Induced pluripotent stem cell
Publications	PubMed=32485644; DOI=10.1016/j.scr.2020.101836; PMCID=PMC7446138 Han M.-J., Annunziata I., Weesner J.A., Campos Y., Salie M., O'Reilly C., d'Azzo A. Generation of human induced pluripotent stem cells (hIPSCs) from sialidosis types I and II patients with pathogenic neuraminidase 1 mutations. Stem Cell Res. 46:101836-101836(2020)
Cell line databases/resources	hPSCreg; STJUDEi001-A
Encyclopedic resources	Wikidata; Q98132855
Entry history
Entry creation	12-Mar-2020
Last entry update	19-Dec-2024
Version number	9