Cellosaurus cell line CHDTRi006-E (CVCL

Cross-references
Cell line name	CHDTRi006-E
Synonyms	HT958E; iSP29.2.2E
Accession	CVCL_E3T6
Resource Identification Initiative	To cite this cell line use: CHDTRi006-E (RRID:CVCL_E3T6)
Comments	From: Division of Translational Research, NICHD, NIH; Bethesda; USA. Population: Caucasian. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:2074; CLN3; Simple; c.461-280_677+382del (1.02-kb del); ClinVar=VCV000003552; Zygosity=Heterozygous (PubMed=39317061). Mutation; HGNC; HGNC:2074; CLN3; Simple; c.461-3C>G; ClinVar=VCV000422288; Zygosity=Heterozygous (PubMed=39317061).
Disease	Neuronal ceroid lipofuscinosis type 3 (NCIt: C61258) Congenital neuronal ceroid lipofuscinosis (ORDO: Orphanet_168486)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	29Y
Category	Induced pluripotent stem cell
Publications	PubMed=39317061; DOI=10.1016/j.scr.2024.103563 Dwojak E., O'mard D., Zou J.-Z., Wassif C.A., Burkett S.S., Eckhaus M., Faucz F.R., Padilla C., Villasmil R., Zheng W., Dang Do A.N. Six induced pluripotent stem cell lines from fibroblasts of individuals with CLN3-related conditions. Stem Cell Res. 81:103563-103563(2024)
Cell line databases/resources	hPSCreg; CHDTRi006-E
Biological sample resources	BioSamples; SAMEA115988712
Entry history
Entry creation	19-Dec-2024
Last entry update	19-Dec-2024
Version number	1