Cellosaurus logo
expasy logo

Cellosaurus CSUXHi003-A (CVCL_A1MU)

[Text][XML][JSON]
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 site: In situ; Scalp, skin, dermis; UBERON=UBERON_8300000+UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 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
Jie Wen, Jian Song, Chu-Feng He, Jie Ling, Ya-Lan Liu, Hong-Sheng Chen, Wei Gong, Ling-Yun Mei, Yong Feng;
Establishment of an iPSC line (CSUXHi003-A) from a patient with Waardenburg syndrome type II 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 update19-Dec-2024
Version number7