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Cellosaurus CD#59 ipsC (CVCL_A5RK)

[Text version]
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

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Publications

PubMed=33304759; DOI=10.1002/advs.202002155; PMCID=PMC7709977
Feng L.-Z., Chao J.-F., Tian E., Li L., Ye P., Zhang M., Chen X.-W., Cui Q., Sun G.-H., Zhou T., Felix G., Qin Y., Li W.-D., Meza E.D., Klein J., Ghoda L.Y., Hu W.-D., Luo Y.-L., Dang W., Hsu D., Gold J.D., Goldman S.A., Matalon R.K., Shi Y.-H.
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