Cellosaurus cell line C7788 (CVCL

Cross-references
Cell line name	C7788
Accession	CVCL_B3W4
Resource Identification Initiative	To cite this cell line use: C7788 (RRID:CVCL_B3W4)
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). Mutation; HGNC; HGNC:2073; TPP1; Simple; p.Arg208Ter (c.622C>T); ClinVar=VCV000002643; Zygosity=Heterozygous (PubMed=9295267).
Disease	Neuronal ceroid lipofuscinosis type 2 (NCIt: C85864) Congenital neuronal ceroid lipofuscinosis (ORDO: Orphanet_168486)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Category	Transformed cell line
Publications	PubMed=9295267; DOI=10.1126/science.277.5333.1802 Sleat D.E., Donnelly R.J., Lackland H., Liu C.-G., Sohar I., Pullarkat R.K., Lobel P. Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis. Science 277:1802-1805(1997)
Encyclopedic resources	Wikidata; Q110432668
Entry history
Entry creation	16-Dec-2021
Last entry update	19-Dec-2024
Version number	6