Cellosaurus cell line GM27464 (CVCL

Cross-references
Cell line name	GM27464
Synonyms	GM27464*C; HT138C
Accession	CVCL_YE52
Resource Identification Initiative	To cite this cell line use: GM27464 (RRID:CVCL_YE52)
Comments	Population: Jewish; Ashkenazi. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:11120; SMPD1; Simple; p.Phe333Serfs*52 (c.996delC) (P330fs, 990delC); ClinVar=VCV000002990; Zygosity=Heterozygous (Coriell=GM27464).
Disease	Niemann-Pick disease, type A (NCIt: C126561) Niemann-Pick disease type A (ORDO: Orphanet_77292)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy	Parent: CVCL_AX25 (GM13205)
Sex of cell	Female
Age at sampling	2Y
Category	Induced pluripotent stem cell
Publications	PubMed=27484861; DOI=10.5966/sctm.2015-0373; PMCID=PMC5189647 Yan Long, Miao Xu, Rong Li, Sheng Dai, Jeanette K. Beers, Guo-Kai Chen, Ferri Soheilian, Ulrich Baxa, Meng-Qiao Wang, Juan Jose Marugan, Silvia Muro ...Show all 14 authors... , Zhi-Yuan Li, Roscoe Owen Brady, Wei Zheng; Show fewer authors Induced pluripotent stem cells for disease modeling and evaluation of therapeutics for Niemann-Pick disease type A. Stem Cells Transl. Med. 5:1644-1655(2016)
Cell line collections (Providers)	Coriell; GM27464
Encyclopedic resources	Wikidata; Q93933252
Entry history
Entry creation	19-Dec-2019
Last entry update	19-Dec-2024
Version number	11