ID   WISC013i-SCID
AC   CVCL_VS04
DR   WiCell; wisc013i-scid
DR   Wikidata; Q98134933
CC   From: University of Wisconsin; Madison; USA.
CC   Population: African American.
CC   Sequence variation: Mutation; HGNC; HGNC:186; ADA; Simple; c.33+1G>C (IVS1DS,G-C,+1); ClinVar=VCV000001976; Zygosity=Heterozygous; Note=Splice donor mutation (from parent cell line).
CC   Sequence variation: Mutation; HGNC; HGNC:186; ADA; Simple; p.Arg101Gln (c.302G>A); ClinVar=VCV000001956; Zygosity=Heterozygous (from parent cell line).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C3962; Adenosine deaminase deficiency
DI   ORDO; Orphanet_277; Severe combined immunodeficiency due to adenosine deaminase deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_GS54 ! GM01715
SX   Male
AG   3Y
CA   Induced pluripotent stem cell
DT   Created: 25-02-19; Last updated: 19-12-24; Version: 10
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