ID   CSUXHi003-A
AC   CVCL_A1MU
DR   BioSamples; SAMEA7574345
DR   hPSCreg; CSUXHi003-A
DR   Wikidata; Q102113731
RX   PubMed=33454628;
CC   From: Department of Neurology, Xiangya Hospital of Central South University; Changsha; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 7105; MITF; Simple; p.His316Leu (c.947A>T) (p.His209Leu, c.626A>T); Zygosity=Heterozygous (PubMed=33454628).
CC   Derived from site: In situ; Scalp, skin, dermis; UBERON=UBERON_8300000+UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C75009; Waardenburg syndrome type 2
DI   ORDO; Orphanet_3440; Waardenburg syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   4Y
CA   Induced pluripotent stem cell
DT   Created: 29-10-20; Last updated: 29-06-23; Version: 6
//
RX   PubMed=33454628; DOI=10.1016/j.scr.2021.102157;
RA   Wen J., Song J., He C.-F., Ling J., Liu Y.-L., Chen H.-S., Gong W.,
RA   Mei L.-Y., Feng Y.;
RT   "Establishment of an iPSC line (CSUXHi003-A) from a patient with
RT   Waardenburg syndrome type caused by a MITF mutation.";
RL   Stem Cell Res. 51:102157-102157(2021).
//