ID   PUFHi004-A
AC   CVCL_C1VJ
DR   BioSamples; SAMEA14299767
DR   hPSCreg; PUFHi004-A
DR   Wikidata; Q114312740
CC   From: Peking University First Hospital; Beijing; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; HGNC:25380; TMEM163; Simple; p.Leu76Pro (c.227T>C); ClinVar=VCV002443749; Zygosity=Heterozygous (hPSCreg=PUFHi004-A).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C61253; Leukodystrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   1-4Y
CA   Induced pluripotent stem cell
DT   Created: 22-09-22; Last updated: 19-12-24; Version: 5
//