Cellosaurus cell line TRNDi027-A (CVCL

Cross-references
Cell line name	TRNDi027-A
Synonyms	HT237A
Accession	CVCL_B5V1
Resource Identification Initiative	To cite this cell line use: TRNDi027-A (RRID:CVCL_B5V1)
Comments	From: NIH-NCATS-TRND Branch; Rockville; 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:7897; NPC1; Simple; p.Pro237Ser (c.709C>T); ClinVar=VCV000021142; Zygosity=Heterozygous (PubMed=29631617). Mutation; HGNC; HGNC:7897; NPC1; Simple; p.Ile1061Thr (c.3182T>C); ClinVar=VCV000002967; Zygosity=Heterozygous (PubMed=29631617).
Disease	Niemann-Pick disease, type C1 (NCIt: C126864) Niemann-Pick disease type C (ORDO: Orphanet_646)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy	Parent: CVCL_7374 (GM03123)
Sex of cell	Female
Age at sampling	9Y
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)
Cell line databases/resources	hPSCreg; TRNDi027-A
Encyclopedic resources	Wikidata; Q112041857
Entry history
Entry creation	17-Mar-2022
Last entry update	19-Dec-2024
Version number	5