Cellosaurus logo
expasy logo

Cellosaurus CD#59 ipsC (CVCL_A5RK)

[Text][XML][JSON]
Cell line name CD#59 ipsC
Accession CVCL_A5RK
Resource Identification Initiative To cite this cell line use: CD#59 ipsC (RRID:CVCL_A5RK)
Comments Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
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).
  • Mutation; HGNC; HGNC:4878; HEXA; Simple; p.Arg249Trp (c.745C>T); ClinVar=VCV000126510; Zygosity=Homozygous (from parent cell line).
Disease Canavan disease (NCIt: C84611)
Canavan disease (ORDO: Orphanet_141)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_0P14 (GM00059)
Sex of cell Female
Age at sampling 1Y5M
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=33304759

Markers:
AmelogeninX
CSF1PO11,12
D5S81810,12
D7S8209,11
D13S3178,11
D16S53911,12
D21S1130,31.2
TH019.3
TPOX8,11
vWA14,17

Run an STR similarity search on this cell line
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; Q107114631
Entry history
Entry creation20-May-2021
Last entry update19-Dec-2024
Version number6