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Cellosaurus CD#60 ipsC (CVCL_A5RL)

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Cell line name CD#60 ipsC
Accession CVCL_A5RL
Resource Identification Initiative To cite this cell line use: CD#60 ipsC (RRID:CVCL_A5RL)
Comments Derived from site: In situ; Brain; UBERON=UBERON_0000955.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:756; ASPA; Simple; p.Gly176Asp (c.527C>A); Zygosity=Heterozygous (PubMed=33304759).
  • Mutation; HGNC; HGNC:756; ASPA; Simple; p.Ala305Glu (c.914C>A); ClinVar=VCV000002607; Zygosity=Heterozygous (PubMed=33304759).
Disease Canavan disease (NCIt: C84611)
Canavan disease (ORDO: Orphanet_141)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_0P15 (GM00060)
Sex of cell Male
Age at sampling 2Y
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=33304759

Markers:
AmelogeninX,Y
CSF1PO11
D5S81811,12
D7S82011
D13S3178,11
D16S53912
D21S1130,31.2
TH016,9.3
TPOX8,11
vWA14,18

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Publications

PubMed=33304759; DOI=10.1002/advs.202002155; PMCID=PMC7709977
Li-Zhao Feng, Jian-Fei Chao, E. Tian, Li Li, Peng Ye, Mi Zhang, Xian-Wei Chen, Qi Cui, Gui-Hua Sun, Tao Zhou, Gerardo Felix ...Show all 24 authors... , Yue Qin, Wen-Dong Li, Edward David Meza, Jeremy Klein, Lucy Y. Ghoda, Wei-Dong Hu, Yong-Lun Luo, Wei Dang, David Hsu, Joseph D. Gold, Steven A. Goldman, Reuben Karl Matalon, Yan-Hong Shi; Show fewer authors
Cell-based therapy for Canavan disease using human iPSC-derived NPCs and OPCs.
Adv. Sci. (Weinh.) 7:2002155.1-2002155.19(2020)

Cross-references
Encyclopedic resources Wikidata; Q107114632
Entry history
Entry creation20-May-2021
Last entry update19-Dec-2024
Version number6