ID   NIHTVBi022-A
AC   CVCL_B7SZ
SY   HT964
DR   BioSamples; SAMEA14027202
DR   hPSCreg; NIHTVBi022-A
DR   Wikidata; Q114312536
RX   PubMed=36070637;
CC   From: National Heart, Lung, and Blood Institute, National Institutes of Health; Bethesda; USA.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 4200; BLOC1S1; Simple; p.Leu62Pro (c.185T>C); Zygosity=Homozygous (PubMed=36070637).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C61253; Leukodystrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   11Y
CA   Induced pluripotent stem cell
DT   Created: 23-06-22; Last updated: 29-06-23; Version: 4
//
RX   PubMed=36070637; DOI=10.1016/j.scr.2022.102905;
RA   Wu K.-Y., Takanohashi A., Woidill S., Seylani A., Helman G., Dias P.,
RA   Beers J.K., Lin Y.-S., Simons C., Wolvetang E.J., Zou J.-H.,
RA   Vanderver A., Sack M.N.;
RT   "Generation of human induced pluripotential stem cells from
RT   individuals with complex heterozygous, isogenic corrected, and
RT   homozygous Bloc1s1 mutations.";
RL   Stem Cell Res. 64:102905-102905(2022).
//