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Cellosaurus CSUXHi003-A (CVCL_A1MU)

[Text version]

Cell line name CSUXHi003-A
Accession CVCL_A1MU
Resource Identification Initiative To cite this cell line use: CSUXHi003-A (RRID:CVCL_A1MU)
Comments From: Department of Neurology, Xiangya Hospital of Central South University; Changsha; China.
Population: Chinese; Han.
Derived from sampling site: Scalp; skin; dermis. Cell type=Fibroblast.
Sequence variations
  • Mutation; HGNC; 7105; MITF; Simple; p.His316Leu (c.947A>T) (p.His209Leu, c.626A>T); Zygosity=Heterozygous (PubMed=33454628).
Disease Waardenburg syndrome type 2 (NCIt: C75009)
Waardenburg syndrome (ORDO: Orphanet_3440)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 4Y
Category Induced pluripotent stem cell
Publications

PubMed=33454628; DOI=10.1016/j.scr.2021.102157
Wen J., Song J., He C.-F., Ling J., Liu Y.-L., Chen H.-S., Gong W., Mei L.-Y., Feng Y.
Establishment of an iPSC line (CSUXHi003-A) from a patient with Waardenburg syndrome type caused by a MITF mutation.
Stem Cell Res. 51:102157-102157(2021)

Cross-references
Cell line databases/resources hPSCreg; CSUXHi003-A
Biological sample resources BioSamples; SAMEA7574345
Encyclopedic resources Wikidata; Q102113731
Entry history
Entry creation29-Oct-2020
Last entry update17-Mar-2022
Version number4