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Cellosaurus TRNDi028-A (CVCL_B5TU)

[Text version]
Cell line name TRNDi028-A
Synonyms HT268A
Accession CVCL_B5TU
Resource Identification Initiative To cite this cell line use: TRNDi028-A (RRID:CVCL_B5TU)
Comments From: NIH-NCATS-TRND Branch; Rockville; USA.
Population: Caucasian.
Derived from site: In situ; Chest, skin; UBERON=UBERON_0001868.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:4177; GBA1; Simple; p.Thr408Met (c.1223C>T) (T369M); ClinVar=VCV000093447; Zygosity=Heterozygous (from parent cell line).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_7434 (GM05659)
Sex of cell Male
Age at sampling 1Y2M
Category Induced pluripotent stem cell
Publications

PubMed=29631617; DOI=10.1186/s13023-018-0798-2; PMCID=PMC5891977
Ni Sima, Rong Li, Wei Huang, Miao Xu, Jeanette K. Beers, Ji-Zhong Zou, Steven A. Titus, Elizabeth A. Ottinger, Juan Jose Marugan, Xing Xie, Wei Zheng;
Neural stem cells for disease modeling and evaluation of therapeutics for infantile (CLN1/PPT1) and late infantile (CLN2/TPP1) neuronal ceroid lipofuscinoses.
Orphanet J. Rare Dis. 13:54.1-54.14(2018)

PubMed=30220252; DOI=10.1186/s13023-018-0886-3; PMCID=PMC6139903
Mylinh Vu, Rong Li, Amanda Baskfield, Billy Lu, Atena Farkhondeh, Kirill Gorshkov, Omid Motabar, Jeanette K. Beers, Guo-Kai Chen, Ji-Zhong Zou, Angela J. Espejo-Mojica ...Show all 18 authors... , Alexander Rodriguez-Lopez, Carlos Javier Almeciga-Diaz, Luis A. Barrera, Xun-Tian Jiang, Daniel S. Ory, Juan Jose Marugan, Wei Zheng; Show fewer authors
Neural stem cells for disease modeling and evaluation of therapeutics for Tay-Sachs disease.
Orphanet J. Rare Dis. 13:152.1-152.15(2018)

PubMed=33375166; DOI=10.3390/cells10010008; PMCID=PMC7822217
Yu-Shan Cheng, Shu Yang, Jun-Jie Hong, Rong Li, Jeanette K. Beers, Ji-Zhong Zou, Wen-Wei Huang, Wei Zheng;
Modeling CNS involvement in Pompe disease using neural stem cells generated from patient-derived induced pluripotent stem cells.
Cells 10:8.1-8.14(2021)

Cross-references
Cell line databases/resources hPSCreg; TRNDi028-A
Encyclopedic resources Wikidata; Q112041859
Entry history
Entry creation17-Mar-2022
Last entry update19-Dec-2024
Version number6