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Cellosaurus CHDTRi005-A (CVCL_E3T5)

[Text version]
Cell line name CHDTRi005-A
Synonyms HT957A; iSP10.2.1A
Accession CVCL_E3T5
Resource Identification Initiative To cite this cell line use: CHDTRi005-A (RRID:CVCL_E3T5)
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; p.Arg334His (c.1001G>A); ClinVar=VCV000056244; Zygosity=Heterozygous (PubMed=39317061).
  • Mutation; HGNC; HGNC:2074; CLN3; Unexplicit; Ex15 partial deletion; 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 20Y
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)

Cross-references
Cell line databases/resources hPSCreg; CHDTRi005-A
Biological sample resources BioSamples; SAMEA115991787
Entry history
Entry creation19-Dec-2024
Last entry update19-Dec-2024
Version number1