ID   JTUi002-A
AC   CVCL_YP17
DR   BioSamples; SAMEA6613349
DR   hPSCreg; JTUi002-A
DR   SKIP; SKIP005810
DR   Wikidata; Q94332510
RX   PubMed=32199281;
CC   From: Sixth People's Hospital, Shanghai Jiao Tong University; Shanghai; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 4284; GJB2; Simple; p.Leu79Cysfs*3 (c.235delC); ClinVar=VCV000017014; Zygosity=Heterozygous (PubMed=32199281).
CC   Sequence variation: Mutation; HGNC; 11190; SOX10; Simple; p.Tyr313Argfs*85 (c.937_947delTACTCAGCAGGC); Zygosity=Heterozygous (PubMed=32199281).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): PubMed=32199281
ST   Amelogenin: X,Y
ST   CSF1PO: 11,12
ST   D12S391: 18,20
ST   D13S317: 9,11
ST   D16S539: 12
ST   D18S51: 16,20
ST   D19S433: 13,15.2
ST   D1S1656: 15,16,17
ST   D21S11: 30
ST   D2S1338: 17,22
ST   D3S1358: 15,16
ST   D5S818: 11
ST   D6S1043: 10,14
ST   D7S820: 10,11
ST   D8S1179: 10,13
ST   FGA: 19,23
ST   Penta D: 11,12
ST   Penta E: 5,10
ST   TH01: 7,9.3
ST   TPOX: 8
ST   vWA: 14,18
DI   NCIt; C85222; Waardenburg syndrome
DI   ORDO; Orphanet_3440; Waardenburg syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   8Y
CA   Induced pluripotent stem cell
DT   Created: 12-03-20; Last updated: 29-06-23; Version: 8
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RX   PubMed=32199281; DOI=10.1016/j.scr.2020.101756;
RA   Wang P.-J., Wang J.-J., Xing Y.-Z., Wang H., Yu D.-Z., Feng Y.-M.,
RA   Wu H.-M., Wu Y.-Q., Chen Z.-N., Wang J.-P., Shi H.-B.;
RT   "Establishment of an iPSC line (JTUi002-A) from a patient with
RT   Waardenburg syndrome caused by a SOX10 mutation and carrying a GJB2
RT   mutation.";
RL   Stem Cell Res. 44:101756-101756(2020).
//