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Cellosaurus GM11097 (CVCL_DA34)

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Cell line name GM11097
Accession CVCL_DA34
Resource Identification Initiative To cite this cell line use: GM11097 (RRID:CVCL_DA34)
Comments Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:11120; SMPD1; Simple; p.Leu43_Ala44del; Zygosity=Heterozygous (from child cell line TRNDi004-I).
Disease Niemann-Pick disease, type B (NCIt: C126866)
Niemann-Pick disease type B (ORDO: Orphanet_77293)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_UL14 (TRNDi004-A)CVCL_UL15 (TRNDi004-B)CVCL_UL16 (TRNDi004-C)
CVCL_UL17 (TRNDi004-D)CVCL_UL18 (TRNDi004-E)CVCL_UL19 (TRNDi004-F)
CVCL_UL20 (TRNDi004-G)CVCL_UL21 (TRNDi004-H)CVCL_UL22 (TRNDi004-I)
CVCL_UL23 (TRNDi004-J)
Sex of cell Male
Age at sampling 1Y
Category Finite cell line
Publications

CLPUB00447
Richard A. Mulivor, Sharon F. Suchy;
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

PubMed=31009819; DOI=10.1016/j.scr.2019.101436; PMCID=PMC6643268
Amanda Baskfield, Rong Li, Jeanette K. Beers, Ji-Zhong Zou, Cheng-Yu Liu, Wei Zheng;
Generation of an induced pluripotent stem cell line (TRNDi004-I) from a Niemann-Pick disease type B patient carrying a heterozygous mutation of p.L43_A44delLA in the SMPD1 gene.
Stem Cell Res. 37:101436-101436(2019)

Cross-references
Cell line collections (Providers) Coriell; GM11097
Cell line databases/resources CLO; CLO_0023029
Encyclopedic resources Wikidata; Q54844858
Entry history
Entry creation13-Jul-2016
Last entry update19-Dec-2024
Version number13