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Cellosaurus NIHTVBi019-A (CVCL_B7SV)

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Cell line name NIHTVBi019-A
Synonyms HT852
Accession CVCL_B7SV
Resource Identification Initiative To cite this cell line use: NIHTVBi019-A (RRID:CVCL_B7SV)
Comments From: National Heart, Lung, and Blood Institute, National Institutes of Health; Bethesda; USA.
Population: Caucasian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:4200; BLOC1S1; Simple; p.His69Pro (c.206A>C); Zygosity=Heterozygous (PubMed=36070637).
  • Mutation; HGNC; HGNC:4200; BLOC1S1; Simple; p.Gly120Glu (c.359G>A); Zygosity=Heterozygous (PubMed=36070637).
Disease Leukodystrophy (NCIt: C61253)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_B7SW (NIHTVBi019-A-1)
Sex of cell Female
Age at sampling 12Y
Category Induced pluripotent stem cell
Publications

PubMed=36070637; DOI=10.1016/j.scr.2022.102905
Kai-Yuan Wu, Asako Takanohashi, Sarah Woidill, Allen Seylani, Guy Helman, Patricia Dias, Jeanette K. Beers, Yong-Shun Lin, Cas Simons, Ernst J. Wolvetang, Ji-Zhong Zou ...Show all 13 authors... , Adeline Vanderver, Michael N. Sack; Show fewer authors
Generation of human induced pluripotential stem cells from individuals with complex heterozygous, isogenic corrected, and homozygous Bloc1s1 mutations.
Stem Cell Res. 64:102905-102905(2022)

Cross-references
Cell line databases/resources hPSCreg; NIHTVBi019-A
Biological sample resources BioSamples; SAMEA14026991
Encyclopedic resources Wikidata; Q114312526
Entry history
Entry creation23-Jun-2022
Last entry update19-Dec-2024
Version number5