Cellosaurus cell line C7790 (CVCL

Cross-references
Cell line name	C7790
Accession	CVCL_B3W6
Resource Identification Initiative	To cite this cell line use: C7790 (RRID:CVCL_B3W6)
Comments	From: Institute for Basic Research in Developmental Disabilities; Staten Island; USA. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:2073; TPP1; Simple; c.509-1G>C; ClinVar=VCV000002644; Zygosity=Heterozygous (PubMed=9295267).
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Category	Transformed cell line
Publications	PubMed=9295267; DOI=10.1126/science.277.5333.1802 David E. Sleat, Robert J. Donnelly, Henry Lackland, Chang-Gong Liu, Istvan Sohar, Raju K. Pullarkat, Peter Lobel; Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis. Science 277:1802-1805(1997)
Encyclopedic resources	Wikidata; Q110432670
Entry history
Entry creation	16-Dec-2021
Last entry update	19-Dec-2024
Version number	5