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Cellosaurus CD#68 iPSC (CVCL_A5RM)

[Text version]
Cell line name CD#68 iPSC
Accession CVCL_A5RM
Resource Identification Initiative To cite this cell line use: CD#68 iPSC (RRID:CVCL_A5RM)
Comments Population: Jewish.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; 756; ASPA; Simple; p.Glu285Ala (c.854A>C); ClinVar=VCV000002605; Zygosity=Homozygous (PubMed=33304759).
Disease Canavan disease (NCIt: C84611)
Canavan disease (ORDO: Orphanet_141)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_0P45 (GM04268)
Children:
CVCL_A5RU (CD#68T-13 iPSC)
Sex of cell Male
Age at sampling 2Y
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=33304759

Markers:
AmelogeninX,Y
CSF1PO11
D5S81810,12
D7S8209,12
D13S31711,12
D16S53910,13
D21S1129,31.2
TH019,9.3
TPOX9,11
vWA17,18

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Publications

PubMed=33304759; DOI=10.1002/advs.202002155
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., 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; Q107114634
Entry history
Entry creation20-May-2021
Last entry update29-Jun-2023
Version number5